Canonical Allele Identifier: CA347303910
Community Standard Title: NM_001615.4(ACTG2):c.532C>A (p.Arg178Ser)
Gene: ACTG2 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_001615.4:c.532C>A MANE Select NP_001606.1:p.Arg178Ser
ENST00000345517.8:c.532C>A MANE Select ENSP00000295137.3:p.Arg178Ser
NM_001199893.1:c.403C>A NP_001186822.1:p.Arg135Ser
NM_001199893.2:c.403C>A NP_001186822.1:p.Arg135Ser
NM_001615.3:c.532C>A NP_001606.1:p.Arg178Ser
ENST00000345517.7:c.532C>A ENSP00000295137.3:p.Arg178Ser
ENST00000409624.1:c.532C>A ENSP00000386857.1:p.Arg178Ser
ENST00000409731.7:c.403C>A ENSP00000386929.3:p.Arg135Ser
ENST00000429756.5:c.*287C>A ENSP00000392894.1:n.*287C>A
ENST00000438902.6:c.*597C>A ENSP00000410706.2:n.*597C>A