Canonical Allele Identifier: CA133224

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236739318G>A , CM000663.2:g.236739318G>A	GRCh38
NC_000001.10:g.236902618G>A , CM000663.1:g.236902618G>A	GRCh37
NC_000001.9:g.234969241G>A	NCBI36
NG_009081.1:g.57849G>A
NG_009081.2:g.80178G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001103.4:c.893G>A MANE Select	NP_001094.1:p.Arg298His
ENST00000366578.6:c.893G>A MANE Select	ENSP00000355537.4:p.Arg298His
NM_001103.3:c.893G>A	NP_001094.1:p.Arg298His
NM_001278343.1:c.893G>A	NP_001265272.1:p.Arg298His
NM_001278343.2:c.893G>A	NP_001265272.1:p.Arg298His
NM_001278344.1:c.269G>A	NP_001265273.1:p.Arg90His
NM_001278344.2:c.269G>A	NP_001265273.1:p.Arg90His
ENST00000366578.5:c.893G>A	ENSP00000355537.4:p.Arg298His
ENST00000492634.5:n.1126G>A
ENST00000492634.6:n.823G>A
ENST00000492634.7:n.823G>A
ENST00000494762.1:n.213G>A
ENST00000542672.5:c.893G>A	ENSP00000443495.1:p.Arg298His
ENST00000542672.6:c.893G>A	ENSP00000443495.1:p.Arg298His
ENST00000542672.7:c.893G>A	ENSP00000443495.1:p.Arg298His
ENST00000546208.5:c.269G>A	ENSP00000438384.2:p.Arg90His
ENST00000651091.1:c.583G>A	ENSP00000498677.1:n.583G>A
ENST00000651275.1:c.785G>A	ENSP00000498926.1:p.Arg262His
ENST00000651781.1:c.210+2138G>A
ENST00000651786.1:c.*265G>A	ENSP00000498364.1:n.*265G>A
ENST00000652096.1:c.*298G>A	ENSP00000498896.1:n.*298G>A
ENST00000682015.1:c.800G>A	ENSP00000506961.1:p.Arg267His
ENST00000682692.1:n.640G>A
ENST00000682966.1:n.6534G>A
ENST00000683111.1:c.*179G>A	ENSP00000507913.1:n.*179G>A
ENST00000683322.1:n.2245G>A
ENST00000684050.1:n.3531G>A
ENST00000684286.1:n.2448G>A
ENST00000684502.1:n.842G>A