Canonical Allele Identifier: CA481751041
Gene: MYL2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.111352093C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110914289C>A , CM000674.2:g.110914289C>A GRCh38
NC_000012.11:g.111352093C>A , CM000674.1:g.111352093C>A GRCh37
NC_000012.10:g.109836476C>A NCBI36
NG_007554.1:g.11289G>T , LRG_393:g.11289G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000228841.15:c.171G>T MANE Select ENSP00000228841.8:p.Gly57=
ENST00000663220.1:c.114G>T ENSP00000499568.1:p.Gly38=
ENST00000228841.12:c.171G>T ENSP00000228841.7:p.Gly57=
ENST00000548438.1:c.129G>T ENSP00000447154.1:p.Gly43=
ENST00000549029.1:n.2G>T
NM_000432.3:c.171G>T , LRG_393t1:c.171G>T NP_000423.2:p.Gly57=
NM_000432.4:c.171G>T MANE Select NP_000423.2:p.Gly57=