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Gene

MYL2

myosin light chain 2

Summary

Cytogenetic location
12q24.11
Coordinates
Chromosome 12: 110,910,845–110,920,579 (GRCh38)
Exons
7 exons across 9.7 kb
Protein
166 amino acids
Inheritance
Autosomal dominant
Also known as
CMH10
MANE Select transcript
ENST00000228841.15NM_000432.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Curated report relevant to this gene

    • Hypertrophic Cardiomyopathy

      • Autosomal dominant

        One of 62 genes linked to it

        A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.

        • ClinGen rates the link definitive
        • 3 GenCC submitters rate it definitive or strong
        • On the ACMG secondary findings list
        What knowing changes

        Beta-blockers, non-dihydropyridine calcium channel blockers, activity restriction, genetic counseling

    Inheritance

    Autosomal dominant
    One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

    How MYL2 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Variants with a page
    Chromosome 12, with a bracket where MYL2 sits. MYL2 and 13 genes near it on chromosome 12, from 110,415,712 to 111,415,711.Chromosome 1212q24.11p13.33p13.32p13.31p13.2p13.1p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11q12q13.11q13.12q13.13q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.31q24.32q24.33110.6 Mb110.8 Mb111 Mb111.2 Mb111.4 MbARPC3: 110,434,436–110,450,422, reverse strandARPC3GPN3: 110,452,473–110,469,268, reverse strandGPN3FAM216A: 110,468,405–110,492,196, forward strandFAM216AVPS29: 110,469,903–110,502,132, reverse strandVPS29RAD9B: 110,501,479–110,533,556, forward strandRAD9BPPTC7: 110,533,245–110,583,383, reverse strandPPTC7TCTN1: 110,614,027–110,663,587, forward strandTCTN1HVCN1: 110,627,836–110,704,950, reverse strandHVCN1PPP1CC: 110,708,366–110,742,939, reverse strandPPP1CCCCDC63: 110,846,769–110,907,535, forward strandCCDC63MYL2: 110,910,845–110,920,579, reverse strandMYL2CUX2: 111,033,723–111,350,554, forward strandCUX2PHETA1: 111,360,651–111,369,173, reverse strandPHETA1SH2B3: 111,404,986–111,451,623, forward strandSH2B3Diagram of MYL2: 7 exons on the reverse strand of chromosome 12Exon 7: 4 known disease-causing sitesExon 6: 1 known disease-causing siteExon 5: 1 known disease-causing siteExon 4: 5 known disease-causing sitesExon 3: 3 known disease-causing sitesExon 2: 5 known disease-causing sitesExon 7: 110,910,845–110,911,175, 331 bases. 1 variant with a page in exon 7. List themExon 6: 110,913,096–110,913,144, 49 basesExon 5: 110,913,246–110,913,324, 79 basesExon 4: 110,914,186–110,914,290, 105 bases. 1 variant with a page in exon 4. List themExon 3: 110,915,715–110,915,790, 76 basesExon 2: 110,919,104–110,919,193, 90 bases. 2 variants with a page in exon 2. List themExon 1: 110,920,527–110,920,579, 53 bases76543215′3′

    Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

    Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

    Nearby genes from Ensembl release 116, on GRCh38.

    Exons make up 0.8 kb of the gene's 9.7 kb; 501 of those bases code for the protein.

    How a genome test reads MYL2

    20

    positions in MYL2 where ClinVar classes a change as pathogenic or likely pathogenic

    None of them falls in a region short reads find hard.

    A whole genome covers all 9.7 kb of MYL2, introns included, not only the 0.8 kb of exons.

    Variants with a page (5)

    The MYL2 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.

    VariantHGVS c.Exon or intronPosition (GRCh38)ClinVar classificationReview status
    G162Ec.485G>AExon 7110,911,093Likely pathogenic3 stars out of 4 reviewed by expert panel
    c.403-1G>CIntron 6110,911,176Pathogenic/likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
    E22Kc.64G>AExon 2110,919,133Pathogenic/likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
    F18Lc.52T>CExon 2110,919,145Pathogenic/likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
    R58Qc.173G>AExon 4110,914,287Pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts

    Genes linked to the same conditions

    Traits linked to MYL2

    The Human Phenotype Ontology lists these as features of the rare conditions MYL2 can cause. Each trait's page lists the other genes linked to it.

    External links

    Where this comes from

    • HGNC: the gene's symbol, name, other symbols and location.
    • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
    • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
    • The ACMG secondary findings list, SF v3.2.
    • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
    • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
    • Data release 2026.10.16-c6eea6bf.

    Cite this page

    APA

    Dante Labs. (n.d.). MYL2 gene: myosin light chain 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/myl2

    Vancouver

    Dante Labs. MYL2 gene: myosin light chain 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/myl2

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