Canonical Allele Identifier: CA2487049925

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236754058C= , CM000663.2:g.236754058C=	GRCh38
NC_000001.10:g.236917358C= , CM000663.1:g.236917358C=	GRCh37
NC_000001.9:g.234983981C=	NCBI36
NG_009081.1:g.72589C=
NG_009081.2:g.94918C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1951C=	ENSP00000443495.1:p.Pro651=
ENST00000461367.2:n.247C=
ENST00000492634.7:n.1881C=
ENST00000682015.1:c.1858C=	ENSP00000506961.1:p.Pro620=
ENST00000682692.1:n.3046C=
ENST00000682966.1:n.7592C=
ENST00000683111.1:c.*1237C=	ENSP00000507913.1:n.*1237C=
ENST00000683322.1:n.3303C=
ENST00000684050.1:n.4589C=
ENST00000684286.1:n.3506C=
ENST00000684502.1:n.3248C=
ENST00000684763.1:n.566C=
ENST00000366578.6:c.1951C= MANE Select	ENSP00000355537.4:p.Pro651=
ENST00000492634.6:n.1881C=
ENST00000542672.6:c.1951C=	ENSP00000443495.1:p.Pro651=
ENST00000651091.1:c.1641C=	ENSP00000498677.1:n.1641C=
ENST00000651275.1:c.1843C=	ENSP00000498926.1:p.Pro615=
ENST00000651781.1:c.1031C=
ENST00000651786.1:c.*1323C=	ENSP00000498364.1:n.*1323C=
ENST00000652096.1:c.*1356C=	ENSP00000498896.1:n.*1356C=
ENST00000366578.5:c.1951C=	ENSP00000355537.4:p.Pro651=
ENST00000461367.1:n.160C=
ENST00000542672.5:c.1951C=	ENSP00000443495.1:p.Pro651=
ENST00000546208.5:c.1327C=	ENSP00000438384.2:p.Pro443=
NM_001103.3:c.1951C=	NP_001094.1:p.Pro651=
NM_001278343.1:c.1951C=	NP_001265272.1:p.Pro651=
NM_001278344.1:c.1327C=	NP_001265273.1:p.Pro443=
NM_001278343.2:c.1951C=	NP_001265272.1:p.Pro651=
NM_001103.4:c.1951C= MANE Select	NP_001094.1:p.Pro651=
NM_001278344.2:c.1327C=	NP_001265273.1:p.Pro443=