Canonical Allele Identifier: CA2487047564

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236747701G= , CM000663.2:g.236747701G=	GRCh38
NC_000001.10:g.236911001G= , CM000663.1:g.236911001G=	GRCh37
NC_000001.9:g.234977624G=	NCBI36
NG_009081.1:g.66232G=
NG_009081.2:g.88561G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1441G=	ENSP00000443495.1:p.Asp481=
ENST00000492634.7:n.1371G=
ENST00000682015.1:c.1348G=	ENSP00000506961.1:p.Asp450=
ENST00000682692.1:n.1188G=
ENST00000682966.1:n.7082G=
ENST00000683111.1:c.*727G=	ENSP00000507913.1:n.*727G=
ENST00000683322.1:n.2793G=
ENST00000684050.1:n.4079G=
ENST00000684286.1:n.2996G=
ENST00000684502.1:n.1390G=
ENST00000366578.6:c.1441G= MANE Select	ENSP00000355537.4:p.Asp481=
ENST00000492634.6:n.1371G=
ENST00000542672.6:c.1441G=	ENSP00000443495.1:p.Asp481=
ENST00000651091.1:c.1131G=	ENSP00000498677.1:n.1131G=
ENST00000651275.1:c.1333G=	ENSP00000498926.1:p.Asp445=
ENST00000651781.1:c.521G=
ENST00000651786.1:c.*813G=	ENSP00000498364.1:n.*813G=
ENST00000652096.1:c.*846G=	ENSP00000498896.1:n.*846G=
ENST00000366578.5:c.1441G=	ENSP00000355537.4:p.Asp481=
ENST00000492101.1:n.2G=
ENST00000542672.5:c.1441G=	ENSP00000443495.1:p.Asp481=
ENST00000546208.5:c.817G=	ENSP00000438384.2:p.Asp273=
NM_001103.3:c.1441G=	NP_001094.1:p.Asp481=
NM_001278343.1:c.1441G=	NP_001265272.1:p.Asp481=
NM_001278344.1:c.817G=	NP_001265273.1:p.Asp273=
NM_001278343.2:c.1441G=	NP_001265272.1:p.Asp481=
NM_001103.4:c.1441G= MANE Select	NP_001094.1:p.Asp481=
NM_001278344.2:c.817G=	NP_001265273.1:p.Asp273=