Canonical Allele Identifier: CA2487053185

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762470C= , CM000663.2:g.236762470C=	GRCh38
NC_000001.10:g.236925770C= , CM000663.1:g.236925770C=	GRCh37
NC_000001.9:g.234992393C=	NCBI36
NG_009081.1:g.81001C=
NG_009081.2:g.103330C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2536C=	ENSP00000443495.1:p.Leu846=
ENST00000461367.2:n.832C=
ENST00000492634.7:n.2466C=
ENST00000682015.1:c.2443C=	ENSP00000506961.1:p.Leu815=
ENST00000682490.1:n.454C=
ENST00000682692.1:n.3631C=
ENST00000682966.1:n.8177C=
ENST00000683111.1:c.*1822C=	ENSP00000507913.1:n.*1822C=
ENST00000683322.1:n.3888C=
ENST00000683805.1:n.1327C=
ENST00000684050.1:n.5174C=
ENST00000684122.1:n.1970C=
ENST00000684286.1:n.4091C=
ENST00000684502.1:n.3833C=
ENST00000684763.1:n.1151C=
ENST00000366578.6:c.2536C= MANE Select	ENSP00000355537.4:p.Leu846=
ENST00000492634.6:n.2466C=
ENST00000542672.6:c.2536C=	ENSP00000443495.1:p.Leu846=
ENST00000651091.1:c.2226C=	ENSP00000498677.1:n.2226C=
ENST00000651275.1:c.2428C=	ENSP00000498926.1:p.Leu810=
ENST00000651781.1:c.1616C=
ENST00000651786.1:c.*1908C=	ENSP00000498364.1:n.*1908C=
ENST00000652096.1:c.*1941C=	ENSP00000498896.1:n.*1941C=
ENST00000366578.5:c.2536C=	ENSP00000355537.4:p.Leu846=
ENST00000461367.1:n.745C=
ENST00000542672.5:c.2536C=	ENSP00000443495.1:p.Leu846=
ENST00000546208.5:c.1912C=	ENSP00000438384.2:p.Leu638=
NM_001103.3:c.2536C=	NP_001094.1:p.Leu846=
NM_001278343.1:c.2536C=	NP_001265272.1:p.Leu846=
NM_001278344.1:c.1912C=	NP_001265273.1:p.Leu638=
NM_001278343.2:c.2536C=	NP_001265272.1:p.Leu846=
NM_001103.4:c.2536C= MANE Select	NP_001094.1:p.Leu846=
NM_001278344.2:c.1912C=	NP_001265273.1:p.Leu638=