Canonical Allele Identifier: CA041944

Gene: MYL2

Linked Data

• dbSNP Id: rs201058436
• ExAC: 12:111351009 C / A
• gnomAD v2: 12-111351009-C-A
• gnomAD v3: 12-110913205-C-A
• gnomAD v4: 12-110913205-C-A
• MyVariant Identifiers: chr12:g.111351009C>A (hg19) ; chr12:g.110913205C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110913205C>A , CM000674.2:g.110913205C>A	GRCh38
NC_000012.11:g.111351009C>A , CM000674.1:g.111351009C>A	GRCh37
NC_000012.10:g.109835392C>A	NCBI36
NG_007554.1:g.12373G>T , LRG_393:g.12373G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000228841.15:c.353+41G>T MANE Select	ENSP00000228841.8:n.353+41G>T
ENST00000663220.1:c.296+41G>T	ENSP00000499568.1:n.296+41G>T
ENST00000228841.12:c.353+41G>T	ENSP00000228841.7:n.353+41G>T
ENST00000548438.1:c.311+41G>T	ENSP00000447154.1:n.311+41G>T
ENST00000549029.1:n.225G>T
NM_000432.3:c.353+41G>T , LRG_393t1:c.353+41G>T	NP_000423.2:n.353+41G>T
NM_000432.4:c.353+41G>T MANE Select	NP_000423.2:n.353+41G>T