Canonical Allele Identifier: CA289148

Gene: ACTG2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73909130C>A , CM000664.2:g.73909130C>A	GRCh38
NC_000002.11:g.74136257C>A , CM000664.1:g.74136257C>A	GRCh37
NC_000002.10:g.73989765C>A	NCBI36
NG_034140.1:g.21165C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001615.4:c.442C>A MANE Select	NP_001606.1:p.Arg148Ser
ENST00000345517.8:c.442C>A MANE Select	ENSP00000295137.3:p.Arg148Ser
NM_001199893.1:c.313C>A	NP_001186822.1:p.Arg105Ser
NM_001199893.2:c.313C>A	NP_001186822.1:p.Arg105Ser
NM_001615.3:c.442C>A	NP_001606.1:p.Arg148Ser
ENST00000345517.7:c.442C>A	ENSP00000295137.3:p.Arg148Ser
ENST00000409624.1:c.442C>A	ENSP00000386857.1:p.Arg148Ser
ENST00000409731.7:c.313C>A	ENSP00000386929.3:p.Arg105Ser
ENST00000429756.5:c.*197C>A	ENSP00000392894.1:n.*197C>A
ENST00000438902.6:c.*507C>A	ENSP00000410706.2:n.*507C>A