Canonical Allele Identifier: CA2487050362

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755151C= , CM000663.2:g.236755151C=	GRCh38
NC_000001.10:g.236918451C= , CM000663.1:g.236918451C=	GRCh37
NC_000001.9:g.234985074C=	NCBI36
NG_009081.1:g.73682C=
NG_009081.2:g.96011C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2107C=	ENSP00000443495.1:p.Gln703=
ENST00000461367.2:n.403C=
ENST00000492634.7:n.2037C=
ENST00000682015.1:c.2014C=	ENSP00000506961.1:p.Gln672=
ENST00000682692.1:n.3202C=
ENST00000682966.1:n.7748C=
ENST00000683111.1:c.*1393C=	ENSP00000507913.1:n.*1393C=
ENST00000683322.1:n.3459C=
ENST00000683805.1:n.898C=
ENST00000684050.1:n.4745C=
ENST00000684122.1:n.254C=
ENST00000684286.1:n.3662C=
ENST00000684502.1:n.3404C=
ENST00000684763.1:n.722C=
ENST00000366578.6:c.2107C= MANE Select	ENSP00000355537.4:p.Gln703=
ENST00000492634.6:n.2037C=
ENST00000542672.6:c.2107C=	ENSP00000443495.1:p.Gln703=
ENST00000651091.1:c.1797C=	ENSP00000498677.1:n.1797C=
ENST00000651275.1:c.1999C=	ENSP00000498926.1:p.Gln667=
ENST00000651781.1:c.1187C=
ENST00000651786.1:c.*1479C=	ENSP00000498364.1:n.*1479C=
ENST00000652096.1:c.*1512C=	ENSP00000498896.1:n.*1512C=
ENST00000366578.5:c.2107C=	ENSP00000355537.4:p.Gln703=
ENST00000461367.1:n.316C=
ENST00000542672.5:c.2107C=	ENSP00000443495.1:p.Gln703=
ENST00000546208.5:c.1483C=	ENSP00000438384.2:p.Gln495=
NM_001103.3:c.2107C=	NP_001094.1:p.Gln703=
NM_001278343.1:c.2107C=	NP_001265272.1:p.Gln703=
NM_001278344.1:c.1483C=	NP_001265273.1:p.Gln495=
NM_001278343.2:c.2107C=	NP_001265272.1:p.Gln703=
NM_001103.4:c.2107C= MANE Select	NP_001094.1:p.Gln703=
NM_001278344.2:c.1483C=	NP_001265273.1:p.Gln495=