Canonical Allele Identifier: CA2487051218

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236757521C= , CM000663.2:g.236757521C=	GRCh38
NC_000001.10:g.236920821C= , CM000663.1:g.236920821C=	GRCh37
NC_000001.9:g.234987444C=	NCBI36
NG_009081.1:g.76052C=
NG_009081.2:g.98381C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2190C=	ENSP00000443495.1:p.Thr730=
ENST00000461367.2:n.486C=
ENST00000492634.7:n.2120C=
ENST00000682015.1:c.2097C=	ENSP00000506961.1:p.Thr699=
ENST00000682490.1:n.108C=
ENST00000682692.1:n.3285C=
ENST00000682966.1:n.7831C=
ENST00000683111.1:c.*1476C=	ENSP00000507913.1:n.*1476C=
ENST00000683322.1:n.3542C=
ENST00000683805.1:n.981C=
ENST00000684050.1:n.4828C=
ENST00000684122.1:n.337C=
ENST00000684286.1:n.3745C=
ENST00000684502.1:n.3487C=
ENST00000684763.1:n.805C=
ENST00000366578.6:c.2190C= MANE Select	ENSP00000355537.4:p.Thr730=
ENST00000492634.6:n.2120C=
ENST00000542672.6:c.2190C=	ENSP00000443495.1:p.Thr730=
ENST00000651091.1:c.1880C=	ENSP00000498677.1:n.1880C=
ENST00000651275.1:c.2082C=	ENSP00000498926.1:p.Thr694=
ENST00000651781.1:c.1270C=
ENST00000651786.1:c.*1562C=	ENSP00000498364.1:n.*1562C=
ENST00000652096.1:c.*1595C=	ENSP00000498896.1:n.*1595C=
ENST00000366578.5:c.2190C=	ENSP00000355537.4:p.Thr730=
ENST00000461367.1:n.399C=
ENST00000542672.5:c.2190C=	ENSP00000443495.1:p.Thr730=
ENST00000546208.5:c.1566C=	ENSP00000438384.2:p.Thr522=
NM_001103.3:c.2190C=	NP_001094.1:p.Thr730=
NM_001278343.1:c.2190C=	NP_001265272.1:p.Thr730=
NM_001278344.1:c.1566C=	NP_001265273.1:p.Thr522=
NM_001278343.2:c.2190C=	NP_001265272.1:p.Thr730=
NM_001103.4:c.2190C= MANE Select	NP_001094.1:p.Thr730=
NM_001278344.2:c.1566C=	NP_001265273.1:p.Thr522=