Canonical Allele Identifier: CA010353
Gene: MYL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 43476
ClinVar RCV Id: RCV000036405 RCV000462127 RCV002326735 RCV004534760
dbSNP Id: rs374328118
ExAC: 12:111348953 G / C
gnomAD v2: 12-111348953-G-C
gnomAD v4: 12-110911149-G-C
MyVariant Identifiers: chr12:g.111348953G>C (hg19) chr12:g.110911149G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110911149G>C , CM000674.2:g.110911149G>C GRCh38
NC_000012.11:g.111348953G>C , CM000674.1:g.111348953G>C GRCh37
NC_000012.10:g.109833336G>C NCBI36
NG_007554.1:g.14429C>G , LRG_393:g.14429C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000228841.15:c.429C>G MANE Select ENSP00000228841.8:p.Pro143=
ENST00000663220.1:c.372C>G ENSP00000499568.1:p.Pro124=
ENST00000228841.12:c.429C>G ENSP00000228841.7:p.Pro143=
ENST00000548438.1:c.387C>G ENSP00000447154.1:p.Pro129=
NM_000432.3:c.429C>G , LRG_393t1:c.429C>G NP_000423.2:p.Pro143=
NM_000432.4:c.429C>G MANE Select NP_000423.2:p.Pro143=
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