Canonical Allele Identifier: CA2487053282

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762712T= , CM000663.2:g.236762712T=	GRCh38
NC_000001.10:g.236926012T= , CM000663.1:g.236926012T=	GRCh37
NC_000001.9:g.234992635T=	NCBI36
NG_009081.1:g.81243T=
NG_009081.2:g.103572T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.*93T=	ENSP00000443495.1:n.*93T=
ENST00000461367.2:n.1074T=
ENST00000492634.7:n.2708T=
ENST00000682015.1:c.*93T=	ENSP00000506961.1:n.*93T=
ENST00000682490.1:n.696T=
ENST00000682692.1:n.3873T=
ENST00000682966.1:n.8419T=
ENST00000683111.1:c.*2064T=	ENSP00000507913.1:n.*2064T=
ENST00000683322.1:n.4130T=
ENST00000683805.1:n.1569T=
ENST00000684050.1:n.5416T=
ENST00000684122.1:n.2212T=
ENST00000684286.1:n.4333T=
ENST00000684502.1:n.4075T=
ENST00000684763.1:n.1393T=
ENST00000366578.6:c.*93T= MANE Select	ENSP00000355537.4:n.*93T=
ENST00000492634.6:n.2708T=
ENST00000542672.6:c.*93T=	ENSP00000443495.1:n.*93T=
ENST00000651275.1:c.2670T=	ENSP00000498926.1:n.2670T=
ENST00000651781.1:c.1858T=
ENST00000651786.1:c.*2150T=	ENSP00000498364.1:n.*2150T=
ENST00000652096.1:c.*2183T=	ENSP00000498896.1:n.*2183T=
ENST00000366578.5:c.*93T=	ENSP00000355537.4:n.*93T=
ENST00000542672.5:c.*93T=	ENSP00000443495.1:n.*93T=
ENST00000546208.5:c.*93T=	ENSP00000438384.2:n.*93T=
NM_001103.3:c.*93T=	NP_001094.1:n.*93T=
NM_001278343.1:c.*93T=	NP_001265272.1:n.*93T=
NM_001278344.1:c.*93T=	NP_001265273.1:n.*93T=
NM_001278343.2:c.*93T=	NP_001265272.1:n.*93T=
NM_001103.4:c.*93T= MANE Select	NP_001094.1:n.*93T=
NM_001278344.2:c.*93T=	NP_001265273.1:n.*93T=