Canonical Allele Identifier: CA481750760
Gene: MYL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 464146
ClinVar RCV Id: RCV000545501 RCV002330873
dbSNP Id: rs1555257596
MyVariant Identifiers: chr12:g.111348938G>A (hg19) chr12:g.110911134G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.110911134G>A , CM000674.2:g.110911134G>A GRCh38
NC_000012.11:g.111348938G>A , CM000674.1:g.111348938G>A GRCh37
NC_000012.10:g.109833321G>A NCBI36
NG_007554.1:g.14444C>T , LRG_393:g.14444C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000228841.15:c.444C>T MANE Select ENSP00000228841.8:p.Gly148=
ENST00000663220.1:c.387C>T ENSP00000499568.1:p.Gly129=
ENST00000228841.12:c.444C>T ENSP00000228841.7:p.Gly148=
ENST00000548438.1:c.402C>T ENSP00000447154.1:p.Gly134=
NM_000432.3:c.444C>T , LRG_393t1:c.444C>T NP_000423.2:p.Gly148=
NM_000432.4:c.444C>T MANE Select NP_000423.2:p.Gly148=
Search 100 bp 5'
Search 100 bp 3'