Canonical Allele Identifier: CA2487035728

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236718934C= , CM000663.2:g.236718934C=	GRCh38
NC_000001.10:g.236882234C= , CM000663.1:g.236882234C=	GRCh37
NC_000001.9:g.234948857C=	NCBI36
NG_009081.1:g.37465C=
NG_009081.2:g.59794C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.282C=	ENSP00000443495.1:p.Phe94=
ENST00000492634.7:n.377C=
ENST00000494762.2:n.31C=
ENST00000682015.1:c.282C=	ENSP00000506961.1:p.Phe94=
ENST00000682692.1:n.282C=
ENST00000682966.1:n.281C=
ENST00000683075.1:n.221C=
ENST00000683111.1:c.225C=	ENSP00000507913.1:p.Phe75=
ENST00000684050.1:n.317C=
ENST00000684286.1:n.350C=
ENST00000684502.1:n.317C=
ENST00000366578.6:c.282C= MANE Select	ENSP00000355537.4:p.Phe94=
ENST00000492634.6:n.377C=
ENST00000542672.6:c.282C=	ENSP00000443495.1:p.Phe94=
ENST00000651091.1:c.225C=	ENSP00000498677.1:p.Phe75=
ENST00000651187.1:c.66C=	ENSP00000498348.1:p.Phe22=
ENST00000651275.1:c.267C=	ENSP00000498926.1:p.Phe89=
ENST00000651786.1:c.282C=	ENSP00000498364.1:p.Phe94=
ENST00000652096.1:c.282C=	ENSP00000498896.1:p.Phe94=
ENST00000366578.5:c.282C=	ENSP00000355537.4:p.Phe94=
ENST00000492634.5:n.429C=
ENST00000542672.5:c.282C=	ENSP00000443495.1:p.Phe94=
ENST00000546208.5:c.-540C=	ENSP00000438384.2:n.-540C=
NM_001103.3:c.282C=	NP_001094.1:p.Phe94=
NM_001278343.1:c.282C=	NP_001265272.1:p.Phe94=
NM_001278344.1:c.-540C=	NP_001265273.1:n.-540C=
NM_001278343.2:c.282C=	NP_001265272.1:p.Phe94=
NM_001103.4:c.282C= MANE Select	NP_001094.1:p.Phe94=
NM_001278344.2:c.-540C=	NP_001265273.1:n.-540C=