Canonical Allele Identifier: CA010295
Gene: MYL2 HGNC NCBI
gnomAD v2:
12:111348980 C / G
gnomAD v3:
12:110911176 C / G
gnomAD v4:
chr12-110911176-C-G
Joint Max Group AF 0.00002916 (NFE)
Genomes Max Group AF 0.00002854 (NFE)
Exomes Max Group AF 0.00002719 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110911176C>G , CM000674.2:g.110911176C>G GRCh38
NC_000012.11:g.111348980C>G , CM000674.1:g.111348980C>G GRCh37
NC_000012.10:g.109833363C>G NCBI36
NG_007554.1:g.14402G>C , LRG_393:g.14402G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000228841.15:c.403-1G>C MANE Select ENSP00000228841.8:n.403-1G>C
ENST00000663220.1:c.346-1G>C ENSP00000499568.1:n.346-1G>C
ENST00000228841.12:c.403-1G>C ENSP00000228841.7:n.403-1G>C
ENST00000548438.1:c.361-1G>C ENSP00000447154.1:n.361-1G>C
NM_000432.3:c.403-1G>C , LRG_393t1:c.403-1G>C NP_000423.2:n.403-1G>C
NM_000432.4:c.403-1G>C MANE Select NP_000423.2:n.403-1G>C
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