Canonical Allele Identifier: CA332119

Gene: ACTG2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73913565C>T , CM000664.2:g.73913565C>T	GRCh38
NC_000002.11:g.74140692C>T , CM000664.1:g.74140692C>T	GRCh37
NC_000002.10:g.73994200C>T	NCBI36
NG_034140.1:g.25600C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001615.4:c.532C>T MANE Select	NP_001606.1:p.Arg178Cys
ENST00000345517.8:c.532C>T MANE Select	ENSP00000295137.3:p.Arg178Cys
NM_001199893.1:c.403C>T	NP_001186822.1:p.Arg135Cys
NM_001199893.2:c.403C>T	NP_001186822.1:p.Arg135Cys
NM_001615.3:c.532C>T	NP_001606.1:p.Arg178Cys
ENST00000345517.7:c.532C>T	ENSP00000295137.3:p.Arg178Cys
ENST00000409624.1:c.532C>T	ENSP00000386857.1:p.Arg178Cys
ENST00000409731.7:c.403C>T	ENSP00000386929.3:p.Arg135Cys
ENST00000429756.5:c.*287C>T	ENSP00000392894.1:n.*287C>T
ENST00000438902.6:c.*597C>T	ENSP00000410706.2:n.*597C>T