Canonical Allele Identifier: CA243563874

Gene: MYL2

Linked Data

• dbSNP Id: rs75138247
• gnomAD v2: 12-111354367-A-G
• gnomAD v3: 12-110916563-A-G
• gnomAD v4: 12-110916563-A-G
• MyVariant Identifiers: chr12:g.111354367A>G (hg19) ; chr12:g.110916563A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110916563A>G , CM000674.2:g.110916563A>G	GRCh38
NC_000012.11:g.111354367A>G , CM000674.1:g.111354367A>G	GRCh37
NC_000012.10:g.109838750A>G	NCBI36
NG_007554.1:g.9015T>C , LRG_393:g.9015T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000228841.15:c.94-773T>C MANE Select	ENSP00000228841.8:n.94-773T>C
ENST00000663220.1:c.37-773T>C	ENSP00000499568.1:n.37-773T>C
ENST00000228841.12:c.94-773T>C	ENSP00000228841.7:n.94-773T>C
ENST00000548438.1:c.94-2239T>C	ENSP00000447154.1:n.94-2239T>C
NM_000432.3:c.94-773T>C , LRG_393t1:c.94-773T>C	NP_000423.2:n.94-773T>C
NM_000432.4:c.94-773T>C MANE Select	NP_000423.2:n.94-773T>C