Canonical Allele Identifier: CA332120
Gene: ACTG2 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73901430G>A , CM000664.2:g.73901430G>A GRCh38
NC_000002.11:g.74128557G>A , CM000664.1:g.74128557G>A GRCh37
NC_000002.10:g.73982065G>A NCBI36
NG_034140.1:g.13465G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000345517.8:c.119G>A MANE Select ENSP00000295137.3:p.Arg40His
ENST00000345517.7:c.119G>A ENSP00000295137.3:p.Arg40His
ENST00000409624.1:c.119G>A ENSP00000386857.1:p.Arg40His
ENST00000409731.7:c.119G>A ENSP00000386929.3:p.Arg40His
ENST00000409918.5:c.119G>A ENSP00000387182.1:p.Arg40His
ENST00000429756.5:c.119G>A ENSP00000392894.1:p.Arg40His
ENST00000438902.6:c.119G>A ENSP00000410706.2:p.Arg40His
ENST00000442912.5:c.119G>A ENSP00000410020.1:p.Arg40His
ENST00000468543.5:n.199G>A
ENST00000473016.1:n.256G>A
NM_001199893.1:c.119G>A NP_001186822.1:p.Arg40His
NM_001615.3:c.119G>A NP_001606.1:p.Arg40His
NM_001199893.2:c.119G>A NP_001186822.1:p.Arg40His
NM_001615.4:c.119G>A MANE Select NP_001606.1:p.Arg40His