Canonical Allele Identifier: CA2487053218

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762556T= , CM000663.2:g.236762556T=	GRCh38
NC_000001.10:g.236925856T= , CM000663.1:g.236925856T=	GRCh37
NC_000001.9:g.234992479T=	NCBI36
NG_009081.1:g.81087T=
NG_009081.2:g.103416T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2622T=	ENSP00000443495.1:p.Ser874=
ENST00000461367.2:n.918T=
ENST00000492634.7:n.2552T=
ENST00000682015.1:c.2529T=	ENSP00000506961.1:p.Ser843=
ENST00000682490.1:n.540T=
ENST00000682692.1:n.3717T=
ENST00000682966.1:n.8263T=
ENST00000683111.1:c.*1908T=	ENSP00000507913.1:n.*1908T=
ENST00000683322.1:n.3974T=
ENST00000683805.1:n.1413T=
ENST00000684050.1:n.5260T=
ENST00000684122.1:n.2056T=
ENST00000684286.1:n.4177T=
ENST00000684502.1:n.3919T=
ENST00000684763.1:n.1237T=
ENST00000366578.6:c.2622T= MANE Select	ENSP00000355537.4:p.Ser874=
ENST00000492634.6:n.2552T=
ENST00000542672.6:c.2622T=	ENSP00000443495.1:p.Ser874=
ENST00000651091.1:c.2312T=	ENSP00000498677.1:n.2312T=
ENST00000651275.1:c.2514T=	ENSP00000498926.1:p.Ser838=
ENST00000651781.1:c.1702T=
ENST00000651786.1:c.*1994T=	ENSP00000498364.1:n.*1994T=
ENST00000652096.1:c.*2027T=	ENSP00000498896.1:n.*2027T=
ENST00000366578.5:c.2622T=	ENSP00000355537.4:p.Ser874=
ENST00000461367.1:n.831T=
ENST00000542672.5:c.2622T=	ENSP00000443495.1:p.Ser874=
ENST00000546208.5:c.1998T=	ENSP00000438384.2:p.Ser666=
NM_001103.3:c.2622T=	NP_001094.1:p.Ser874=
NM_001278343.1:c.2622T=	NP_001265272.1:p.Ser874=
NM_001278344.1:c.1998T=	NP_001265273.1:p.Ser666=
NM_001278343.2:c.2622T=	NP_001265272.1:p.Ser874=
NM_001103.4:c.2622T= MANE Select	NP_001094.1:p.Ser874=
NM_001278344.2:c.1998T=	NP_001265273.1:p.Ser666=