Canonical Allele Identifier: CA2487049924

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236754057G= , CM000663.2:g.236754057G=	GRCh38
NC_000001.10:g.236917357G= , CM000663.1:g.236917357G=	GRCh37
NC_000001.9:g.234983980G=	NCBI36
NG_009081.1:g.72588G=
NG_009081.2:g.94917G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1950G=	ENSP00000443495.1:p.Gly650=
ENST00000461367.2:n.246G=
ENST00000492634.7:n.1880G=
ENST00000682015.1:c.1857G=	ENSP00000506961.1:p.Gly619=
ENST00000682692.1:n.3045G=
ENST00000682966.1:n.7591G=
ENST00000683111.1:c.*1236G=	ENSP00000507913.1:n.*1236G=
ENST00000683322.1:n.3302G=
ENST00000684050.1:n.4588G=
ENST00000684286.1:n.3505G=
ENST00000684502.1:n.3247G=
ENST00000684763.1:n.565G=
ENST00000366578.6:c.1950G= MANE Select	ENSP00000355537.4:p.Gly650=
ENST00000492634.6:n.1880G=
ENST00000542672.6:c.1950G=	ENSP00000443495.1:p.Gly650=
ENST00000651091.1:c.1640G=	ENSP00000498677.1:n.1640G=
ENST00000651275.1:c.1842G=	ENSP00000498926.1:p.Gly614=
ENST00000651781.1:c.1030G=
ENST00000651786.1:c.*1322G=	ENSP00000498364.1:n.*1322G=
ENST00000652096.1:c.*1355G=	ENSP00000498896.1:n.*1355G=
ENST00000366578.5:c.1950G=	ENSP00000355537.4:p.Gly650=
ENST00000461367.1:n.159G=
ENST00000542672.5:c.1950G=	ENSP00000443495.1:p.Gly650=
ENST00000546208.5:c.1326G=	ENSP00000438384.2:p.Gly442=
NM_001103.3:c.1950G=	NP_001094.1:p.Gly650=
NM_001278343.1:c.1950G=	NP_001265272.1:p.Gly650=
NM_001278344.1:c.1326G=	NP_001265273.1:p.Gly442=
NM_001278343.2:c.1950G=	NP_001265272.1:p.Gly650=
NM_001103.4:c.1950G= MANE Select	NP_001094.1:p.Gly650=
NM_001278344.2:c.1326G=	NP_001265273.1:p.Gly442=