Canonical Allele Identifier: CA386698872

Gene: MYL2

Linked Data

• dbSNP Id: rs112397252
• MyVariant Identifiers: chr12:g.111352096T>G (hg19) ; chr12:g.110914292T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110914292T>G , CM000674.2:g.110914292T>G	GRCh38
NC_000012.11:g.111352096T>G , CM000674.1:g.111352096T>G	GRCh37
NC_000012.10:g.109836479T>G	NCBI36
NG_007554.1:g.11286A>C , LRG_393:g.11286A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000228841.15:c.170-2A>C MANE Select	ENSP00000228841.8:n.170-2A>C
ENST00000663220.1:c.113-2A>C	ENSP00000499568.1:n.113-2A>C
ENST00000228841.12:c.170-2A>C	ENSP00000228841.7:n.170-2A>C
ENST00000548438.1:c.126A>C	ENSP00000447154.1:p.Leu42=
NM_000432.3:c.170-2A>C , LRG_393t1:c.170-2A>C	NP_000423.2:n.170-2A>C
NM_000432.4:c.170-2A>C MANE Select	NP_000423.2:n.170-2A>C