Canonical Allele Identifier: CA481750679
Gene: MYL2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.111348905G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110911101G>A , CM000674.2:g.110911101G>A GRCh38
NC_000012.11:g.111348905G>A , CM000674.1:g.111348905G>A GRCh37
NC_000012.10:g.109833288G>A NCBI36
NG_007554.1:g.14477C>T , LRG_393:g.14477C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000228841.15:c.477C>T MANE Select ENSP00000228841.8:p.Ile159=
ENST00000663220.1:c.420C>T ENSP00000499568.1:p.Ile140=
ENST00000228841.12:c.477C>T ENSP00000228841.7:p.Ile159=
ENST00000548438.1:c.435C>T ENSP00000447154.1:p.Ile145=
NM_000432.3:c.477C>T , LRG_393t1:c.477C>T NP_000423.2:p.Ile159=
NM_000432.4:c.477C>T MANE Select NP_000423.2:p.Ile159=