Canonical Allele Identifier: CA2602561201

Gene: MYL2

Linked Data

• dbSNP Id: rs2071646325
• gnomAD v3: 12-110911021-T-A
• gnomAD v4: 12-110911021-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110911021T>A , CM000674.2:g.110911021T>A	GRCh38
NC_000012.11:g.111348825T>A , CM000674.1:g.111348825T>A	GRCh37
NC_000012.10:g.109833208T>A	NCBI36
NG_007554.1:g.14557A>T , LRG_393:g.14557A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000228841.15:c.*56A>T MANE Select	ENSP00000228841.8:n.*56A>T
ENST00000663220.1:c.*56A>T	ENSP00000499568.1:n.*56A>T
ENST00000228841.12:c.*56A>T	ENSP00000228841.7:n.*56A>T
ENST00000548438.1:c.*56A>T	ENSP00000447154.1:n.*56A>T
NM_000432.3:c.*56A>T , LRG_393t1:c.*56A>T	NP_000423.2:n.*56A>T
NM_000432.4:c.*56A>T MANE Select	NP_000423.2:n.*56A>T