Canonical Allele Identifier: CA1261180827
Community Standard Title: NM_001615.4(ACTG2):c.532C= (p.Arg178=)
Gene: ACTG2 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_001615.4:c.532C= MANE Select NP_001606.1:p.Arg178=
ENST00000345517.8:c.532C= MANE Select ENSP00000295137.3:p.Arg178=
NM_001199893.1:c.403C= NP_001186822.1:p.Arg135=
NM_001199893.2:c.403C= NP_001186822.1:p.Arg135=
NM_001615.3:c.532C= NP_001606.1:p.Arg178=
ENST00000345517.7:c.532C= ENSP00000295137.3:p.Arg178=
ENST00000409624.1:c.532C= ENSP00000386857.1:p.Arg178=
ENST00000409731.7:c.403C= ENSP00000386929.3:p.Arg135=
ENST00000429756.5:c.*287C= ENSP00000392894.1:n.*287C=
ENST00000438902.6:c.*597C= ENSP00000410706.2:n.*597C=