Canonical Allele Identifier: CA386697089
Gene: MYL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110911176C>T , CM000674.2:g.110911176C>T GRCh38
NC_000012.11:g.111348980C>T , CM000674.1:g.111348980C>T GRCh37
NC_000012.10:g.109833363C>T NCBI36
NG_007554.1:g.14402G>A , LRG_393:g.14402G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000228841.15:c.403-1G>A MANE Select ENSP00000228841.8:n.403-1G>A
ENST00000663220.1:c.346-1G>A ENSP00000499568.1:n.346-1G>A
ENST00000228841.12:c.403-1G>A ENSP00000228841.7:n.403-1G>A
ENST00000548438.1:c.361-1G>A ENSP00000447154.1:n.361-1G>A
NM_000432.3:c.403-1G>A , LRG_393t1:c.403-1G>A NP_000423.2:n.403-1G>A
NM_000432.4:c.403-1G>A MANE Select NP_000423.2:n.403-1G>A