Canonical Allele Identifier: CA010139

Gene: MYL2

Linked Data

• ClinVar Variation Id: 43470
• ClinVar RCV Id: RCV000036396 ; RCV001636620 ; RCV001109259
• dbSNP Id: rs186323458
• ExAC: 12:111351038 G / T
• gnomAD v2: 12-111351038-G-T
• gnomAD v3: 12-110913234-G-T
• gnomAD v4: 12-110913234-G-T
• MyVariant Identifiers: chr12:g.111351038G>T (hg19) ; chr12:g.110913234G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110913234G>T , CM000674.2:g.110913234G>T	GRCh38
NC_000012.11:g.111351038G>T , CM000674.1:g.111351038G>T	GRCh37
NC_000012.10:g.109835421G>T	NCBI36
NG_007554.1:g.12344C>A , LRG_393:g.12344C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000228841.15:c.353+12C>A MANE Select	ENSP00000228841.8:n.353+12C>A
ENST00000663220.1:c.296+12C>A	ENSP00000499568.1:n.296+12C>A
ENST00000228841.12:c.353+12C>A	ENSP00000228841.7:n.353+12C>A
ENST00000548438.1:c.311+12C>A	ENSP00000447154.1:n.311+12C>A
ENST00000549029.1:n.196C>A
NM_000432.3:c.353+12C>A , LRG_393t1:c.353+12C>A	NP_000423.2:n.353+12C>A
NM_000432.4:c.353+12C>A MANE Select	NP_000423.2:n.353+12C>A