Canonical Allele Identifier: CA2063066179
Gene: MYL2 HGNC NCBI

Linked Data

dbSNP Id: rs1592798256
gnomAD v4: 12-110910920-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110910920C>T , CM000674.2:g.110910920C>T GRCh38
NC_000012.11:g.111348724C>T , CM000674.1:g.111348724C>T GRCh37
NC_000012.10:g.109833107C>T NCBI36
NG_007554.1:g.14658G>A , LRG_393:g.14658G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000228841.15:c.*157G>A MANE Select ENSP00000228841.8:n.*157G>A
ENST00000663220.1:c.*157G>A ENSP00000499568.1:n.*157G>A
ENST00000228841.12:c.*157G>A ENSP00000228841.7:n.*157G>A
ENST00000548438.1:c.*157G>A ENSP00000447154.1:n.*157G>A
NM_000432.3:c.*157G>A , LRG_393t1:c.*157G>A NP_000423.2:n.*157G>A
NM_000432.4:c.*157G>A MANE Select NP_000423.2:n.*157G>A
Search 100 bp 5'
Search 100 bp 3'