Canonical Allele Identifier: CA2487049913

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236754026G= , CM000663.2:g.236754026G=	GRCh38
NC_000001.10:g.236917326G= , CM000663.1:g.236917326G=	GRCh37
NC_000001.9:g.234983949G=	NCBI36
NG_009081.1:g.72557G=
NG_009081.2:g.94886G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1919G=	ENSP00000443495.1:p.Arg640=
ENST00000461367.2:n.215G=
ENST00000492634.7:n.1849G=
ENST00000682015.1:c.1826G=	ENSP00000506961.1:p.Arg609=
ENST00000682692.1:n.3014G=
ENST00000682966.1:n.7560G=
ENST00000683111.1:c.*1205G=	ENSP00000507913.1:n.*1205G=
ENST00000683322.1:n.3271G=
ENST00000684050.1:n.4557G=
ENST00000684286.1:n.3474G=
ENST00000684502.1:n.3216G=
ENST00000684763.1:n.534G=
ENST00000366578.6:c.1919G= MANE Select	ENSP00000355537.4:p.Arg640=
ENST00000492634.6:n.1849G=
ENST00000542672.6:c.1919G=	ENSP00000443495.1:p.Arg640=
ENST00000651091.1:c.1609G=	ENSP00000498677.1:n.1609G=
ENST00000651275.1:c.1811G=	ENSP00000498926.1:p.Arg604=
ENST00000651781.1:c.999G=
ENST00000651786.1:c.*1291G=	ENSP00000498364.1:n.*1291G=
ENST00000652096.1:c.*1324G=	ENSP00000498896.1:n.*1324G=
ENST00000366578.5:c.1919G=	ENSP00000355537.4:p.Arg640=
ENST00000461367.1:n.128G=
ENST00000542672.5:c.1919G=	ENSP00000443495.1:p.Arg640=
ENST00000546208.5:c.1295G=	ENSP00000438384.2:p.Arg432=
NM_001103.3:c.1919G=	NP_001094.1:p.Arg640=
NM_001278343.1:c.1919G=	NP_001265272.1:p.Arg640=
NM_001278344.1:c.1295G=	NP_001265273.1:p.Arg432=
NM_001278343.2:c.1919G=	NP_001265272.1:p.Arg640=
NM_001103.4:c.1919G= MANE Select	NP_001094.1:p.Arg640=
NM_001278344.2:c.1295G=	NP_001265273.1:p.Arg432=