Canonical Allele Identifier: CA2487050314

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755024T= , CM000663.2:g.236755024T=	GRCh38
NC_000001.10:g.236918324T= , CM000663.1:g.236918324T=	GRCh37
NC_000001.9:g.234984947T=	NCBI36
NG_009081.1:g.73555T=
NG_009081.2:g.95884T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1980T=	ENSP00000443495.1:p.Ile660=
ENST00000461367.2:n.276T=
ENST00000492634.7:n.1910T=
ENST00000682015.1:c.1887T=	ENSP00000506961.1:p.Ile629=
ENST00000682692.1:n.3075T=
ENST00000682966.1:n.7621T=
ENST00000683111.1:c.*1266T=	ENSP00000507913.1:n.*1266T=
ENST00000683322.1:n.3332T=
ENST00000683805.1:n.771T=
ENST00000684050.1:n.4618T=
ENST00000684122.1:n.127T=
ENST00000684286.1:n.3535T=
ENST00000684502.1:n.3277T=
ENST00000684763.1:n.595T=
ENST00000366578.6:c.1980T= MANE Select	ENSP00000355537.4:p.Ile660=
ENST00000492634.6:n.1910T=
ENST00000542672.6:c.1980T=	ENSP00000443495.1:p.Ile660=
ENST00000651091.1:c.1670T=	ENSP00000498677.1:n.1670T=
ENST00000651275.1:c.1872T=	ENSP00000498926.1:p.Ile624=
ENST00000651781.1:c.1060T=
ENST00000651786.1:c.*1352T=	ENSP00000498364.1:n.*1352T=
ENST00000652096.1:c.*1385T=	ENSP00000498896.1:n.*1385T=
ENST00000366578.5:c.1980T=	ENSP00000355537.4:p.Ile660=
ENST00000461367.1:n.189T=
ENST00000542672.5:c.1980T=	ENSP00000443495.1:p.Ile660=
ENST00000546208.5:c.1356T=	ENSP00000438384.2:p.Ile452=
NM_001103.3:c.1980T=	NP_001094.1:p.Ile660=
NM_001278343.1:c.1980T=	NP_001265272.1:p.Ile660=
NM_001278344.1:c.1356T=	NP_001265273.1:p.Ile452=
NM_001278343.2:c.1980T=	NP_001265272.1:p.Ile660=
NM_001103.4:c.1980T= MANE Select	NP_001094.1:p.Ile660=
NM_001278344.2:c.1356T=	NP_001265273.1:p.Ile452=