Canonical Allele Identifier: CA2487053254

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762629T= , CM000663.2:g.236762629T=	GRCh38
NC_000001.10:g.236925929T= , CM000663.1:g.236925929T=	GRCh37
NC_000001.9:g.234992552T=	NCBI36
NG_009081.1:g.81160T=
NG_009081.2:g.103489T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.*10T=	ENSP00000443495.1:n.*10T=
ENST00000461367.2:n.991T=
ENST00000492634.7:n.2625T=
ENST00000682015.1:c.*10T=	ENSP00000506961.1:n.*10T=
ENST00000682490.1:n.613T=
ENST00000682692.1:n.3790T=
ENST00000682966.1:n.8336T=
ENST00000683111.1:c.*1981T=	ENSP00000507913.1:n.*1981T=
ENST00000683322.1:n.4047T=
ENST00000683805.1:n.1486T=
ENST00000684050.1:n.5333T=
ENST00000684122.1:n.2129T=
ENST00000684286.1:n.4250T=
ENST00000684502.1:n.3992T=
ENST00000684763.1:n.1310T=
ENST00000366578.6:c.*10T= MANE Select	ENSP00000355537.4:n.*10T=
ENST00000492634.6:n.2625T=
ENST00000542672.6:c.*10T=	ENSP00000443495.1:n.*10T=
ENST00000651275.1:c.2587T=	ENSP00000498926.1:n.2587T=
ENST00000651781.1:c.1775T=
ENST00000651786.1:c.*2067T=	ENSP00000498364.1:n.*2067T=
ENST00000652096.1:c.*2100T=	ENSP00000498896.1:n.*2100T=
ENST00000366578.5:c.*10T=	ENSP00000355537.4:n.*10T=
ENST00000542672.5:c.*10T=	ENSP00000443495.1:n.*10T=
ENST00000546208.5:c.*10T=	ENSP00000438384.2:n.*10T=
NM_001103.3:c.*10T=	NP_001094.1:n.*10T=
NM_001278343.1:c.*10T=	NP_001265272.1:n.*10T=
NM_001278344.1:c.*10T=	NP_001265273.1:n.*10T=
NM_001278343.2:c.*10T=	NP_001265272.1:n.*10T=
NM_001103.4:c.*10T= MANE Select	NP_001094.1:n.*10T=
NM_001278344.2:c.*10T=	NP_001265273.1:n.*10T=