Canonical Allele Identifier: CA481750987
Gene: MYL2 HGNC NCBI

Linked Data

dbSNP Id: rs2071673764
gnomAD v4: 12-110914187-C-T
COSMIC: COSM4896234
MyVariant Identifiers: chr12:g.111351991C>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110914187C>T , CM000674.2:g.110914187C>T GRCh38
NC_000012.11:g.111351991C>T , CM000674.1:g.111351991C>T GRCh37
NC_000012.10:g.109836374C>T NCBI36
NG_007554.1:g.11391G>A , LRG_393:g.11391G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000228841.15:c.273G>A MANE Select ENSP00000228841.8:p.Lys91=
ENST00000663220.1:c.216G>A ENSP00000499568.1:p.Lys72=
ENST00000228841.12:c.273G>A ENSP00000228841.7:p.Lys91=
ENST00000548438.1:c.231G>A ENSP00000447154.1:p.Lys77=
ENST00000549029.1:n.104G>A
NM_000432.3:c.273G>A , LRG_393t1:c.273G>A NP_000423.2:p.Lys91=
NM_000432.4:c.273G>A MANE Select NP_000423.2:p.Lys91=
Search 100 bp 5'
Search 100 bp 3'