Canonical Allele Identifier: CA2487049920

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236754050C= , CM000663.2:g.236754050C=	GRCh38
NC_000001.10:g.236917350C= , CM000663.1:g.236917350C=	GRCh37
NC_000001.9:g.234983973C=	NCBI36
NG_009081.1:g.72581C=
NG_009081.2:g.94910C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1943C=	ENSP00000443495.1:p.Ala648=
ENST00000461367.2:n.239C=
ENST00000492634.7:n.1873C=
ENST00000682015.1:c.1850C=	ENSP00000506961.1:p.Ala617=
ENST00000682692.1:n.3038C=
ENST00000682966.1:n.7584C=
ENST00000683111.1:c.*1229C=	ENSP00000507913.1:n.*1229C=
ENST00000683322.1:n.3295C=
ENST00000684050.1:n.4581C=
ENST00000684286.1:n.3498C=
ENST00000684502.1:n.3240C=
ENST00000684763.1:n.558C=
ENST00000366578.6:c.1943C= MANE Select	ENSP00000355537.4:p.Ala648=
ENST00000492634.6:n.1873C=
ENST00000542672.6:c.1943C=	ENSP00000443495.1:p.Ala648=
ENST00000651091.1:c.1633C=	ENSP00000498677.1:n.1633C=
ENST00000651275.1:c.1835C=	ENSP00000498926.1:p.Ala612=
ENST00000651781.1:c.1023C=
ENST00000651786.1:c.*1315C=	ENSP00000498364.1:n.*1315C=
ENST00000652096.1:c.*1348C=	ENSP00000498896.1:n.*1348C=
ENST00000366578.5:c.1943C=	ENSP00000355537.4:p.Ala648=
ENST00000461367.1:n.152C=
ENST00000542672.5:c.1943C=	ENSP00000443495.1:p.Ala648=
ENST00000546208.5:c.1319C=	ENSP00000438384.2:p.Ala440=
NM_001103.3:c.1943C=	NP_001094.1:p.Ala648=
NM_001278343.1:c.1943C=	NP_001265272.1:p.Ala648=
NM_001278344.1:c.1319C=	NP_001265273.1:p.Ala440=
NM_001278343.2:c.1943C=	NP_001265272.1:p.Ala648=
NM_001103.4:c.1943C= MANE Select	NP_001094.1:p.Ala648=
NM_001278344.2:c.1319C=	NP_001265273.1:p.Ala440=