Canonical Allele Identifier: CA16604701
Gene: ACTG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 379697
dbSNP Id: rs1057520694

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73913617C>T , CM000664.2:g.73913617C>T GRCh38
NC_000002.11:g.74140744C>T , CM000664.1:g.74140744C>T GRCh37
NC_000002.10:g.73994252C>T NCBI36
NG_034140.1:g.25652C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000345517.8:c.584C>T MANE Select ENSP00000295137.3:p.Thr195Ile
ENST00000345517.7:c.584C>T ENSP00000295137.3:p.Thr195Ile
ENST00000409624.1:c.584C>T ENSP00000386857.1:p.Thr195Ile
ENST00000409731.7:c.455C>T ENSP00000386929.3:p.Thr152Ile
ENST00000438902.6:c.*649C>T ENSP00000410706.2:n.*649C>T
NM_001199893.1:c.455C>T NP_001186822.1:p.Thr152Ile
NM_001615.3:c.584C>T NP_001606.1:p.Thr195Ile
NM_001199893.2:c.455C>T NP_001186822.1:p.Thr152Ile
NM_001615.4:c.584C>T MANE Select NP_001606.1:p.Thr195Ile