Canonical Allele Identifier: CA040649
Gene: MYL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1405120
ClinVar RCV Id: RCV001903576 RCV003892939
dbSNP Id: rs756671869
ExAC: 12:111352092 G / A
gnomAD v2: 12-111352092-G-A
gnomAD v3: 12-110914288-G-A
gnomAD v4: 12-110914288-G-A
MyVariant Identifiers: chr12:g.111352092G>A (hg19) chr12:g.110914288G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110914288G>A , CM000674.2:g.110914288G>A GRCh38
NC_000012.11:g.111352092G>A , CM000674.1:g.111352092G>A GRCh37
NC_000012.10:g.109836475G>A NCBI36
NG_007554.1:g.11290C>T , LRG_393:g.11290C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000228841.15:c.172C>T MANE Select ENSP00000228841.8:p.Arg58Ter
ENST00000663220.1:c.115C>T ENSP00000499568.1:p.Arg39Ter
ENST00000228841.12:c.172C>T ENSP00000228841.7:p.Arg58Ter
ENST00000548438.1:c.130C>T ENSP00000447154.1:p.Arg44Ter
ENST00000549029.1:n.3C>T
NM_000432.3:c.172C>T , LRG_393t1:c.172C>T NP_000423.2:p.Arg58Ter
NM_000432.4:c.172C>T MANE Select NP_000423.2:p.Arg58Ter
Search 100 bp 5'
Search 100 bp 3'