Canonical Allele Identifier: CA009880

Gene: MYL2

Linked Data

• ClinVar Variation Id: 43457
• ClinVar RCV Id: RCV000036382 ; RCV000538837 ; RCV002390143 ; RCV003531921 ; RCV003996219
• dbSNP Id: rs199474808
• ExAC: 12:111353547 G / A
• gnomAD v2: 12-111353547-G-A
• gnomAD v3: 12-110915743-G-A
• gnomAD v4: 12-110915743-G-A
• COSMIC: COSM3772250
• MyVariant Identifiers: chr12:g.111353547G>A (hg19) ; chr12:g.110915743G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110915743G>A , CM000674.2:g.110915743G>A	GRCh38
NC_000012.11:g.111353547G>A , CM000674.1:g.111353547G>A	GRCh37
NC_000012.10:g.109837930G>A	NCBI36
NG_007554.1:g.9835C>T , LRG_393:g.9835C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000228841.15:c.141C>T MANE Select	ENSP00000228841.8:p.Asn47=
ENST00000663220.1:c.84C>T	ENSP00000499568.1:p.Asn28=
ENST00000228841.12:c.141C>T	ENSP00000228841.7:p.Asn47=
ENST00000548438.1:c.94-1419C>T	ENSP00000447154.1:n.94-1419C>T
NM_000432.3:c.141C>T , LRG_393t1:c.141C>T	NP_000423.2:p.Asn47=
NM_000432.4:c.141C>T MANE Select	NP_000423.2:p.Asn47=