Canonical Allele Identifier: CA2487053239

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762596C= , CM000663.2:g.236762596C=	GRCh38
NC_000001.10:g.236925896C= , CM000663.1:g.236925896C=	GRCh37
NC_000001.9:g.234992519C=	NCBI36
NG_009081.1:g.81127C=
NG_009081.2:g.103456C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2662C=	ENSP00000443495.1:p.Leu888=
ENST00000461367.2:n.958C=
ENST00000492634.7:n.2592C=
ENST00000682015.1:c.2569C=	ENSP00000506961.1:p.Leu857=
ENST00000682490.1:n.580C=
ENST00000682692.1:n.3757C=
ENST00000682966.1:n.8303C=
ENST00000683111.1:c.*1948C=	ENSP00000507913.1:n.*1948C=
ENST00000683322.1:n.4014C=
ENST00000683805.1:n.1453C=
ENST00000684050.1:n.5300C=
ENST00000684122.1:n.2096C=
ENST00000684286.1:n.4217C=
ENST00000684502.1:n.3959C=
ENST00000684763.1:n.1277C=
ENST00000366578.6:c.2662C= MANE Select	ENSP00000355537.4:p.Leu888=
ENST00000492634.6:n.2592C=
ENST00000542672.6:c.2662C=	ENSP00000443495.1:p.Leu888=
ENST00000651091.1:c.2352C=	ENSP00000498677.1:n.2352C=
ENST00000651275.1:c.2554C=	ENSP00000498926.1:p.Leu852=
ENST00000651781.1:c.1742C=
ENST00000651786.1:c.*2034C=	ENSP00000498364.1:n.*2034C=
ENST00000652096.1:c.*2067C=	ENSP00000498896.1:n.*2067C=
ENST00000366578.5:c.2662C=	ENSP00000355537.4:p.Leu888=
ENST00000542672.5:c.2662C=	ENSP00000443495.1:p.Leu888=
ENST00000546208.5:c.2038C=	ENSP00000438384.2:p.Leu680=
NM_001103.3:c.2662C=	NP_001094.1:p.Leu888=
NM_001278343.1:c.2662C=	NP_001265272.1:p.Leu888=
NM_001278344.1:c.2038C=	NP_001265273.1:p.Leu680=
NM_001278343.2:c.2662C=	NP_001265272.1:p.Leu888=
NM_001103.4:c.2662C= MANE Select	NP_001094.1:p.Leu888=
NM_001278344.2:c.2038C=	NP_001265273.1:p.Leu680=