Canonical Allele Identifier: CA423810439

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236920818A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236757518A>T , CM000663.2:g.236757518A>T	GRCh38
NC_000001.10:g.236920818A>T , CM000663.1:g.236920818A>T	GRCh37
NC_000001.9:g.234987441A>T	NCBI36
NG_009081.1:g.76049A>T
NG_009081.2:g.98378A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2187A>T	ENSP00000443495.1:p.Thr729=
ENST00000461367.2:n.483A>T
ENST00000492634.7:n.2117A>T
ENST00000682015.1:c.2094A>T	ENSP00000506961.1:p.Thr698=
ENST00000682490.1:n.105A>T
ENST00000682692.1:n.3282A>T
ENST00000682966.1:n.7828A>T
ENST00000683111.1:c.*1473A>T	ENSP00000507913.1:n.*1473A>T
ENST00000683322.1:n.3539A>T
ENST00000683805.1:n.978A>T
ENST00000684050.1:n.4825A>T
ENST00000684122.1:n.334A>T
ENST00000684286.1:n.3742A>T
ENST00000684502.1:n.3484A>T
ENST00000684763.1:n.802A>T
ENST00000366578.6:c.2187A>T MANE Select	ENSP00000355537.4:p.Thr729=
ENST00000492634.6:n.2117A>T
ENST00000542672.6:c.2187A>T	ENSP00000443495.1:p.Thr729=
ENST00000651091.1:c.1877A>T	ENSP00000498677.1:n.1877A>T
ENST00000651275.1:c.2079A>T	ENSP00000498926.1:p.Thr693=
ENST00000651781.1:c.1267A>T
ENST00000651786.1:c.*1559A>T	ENSP00000498364.1:n.*1559A>T
ENST00000652096.1:c.*1592A>T	ENSP00000498896.1:n.*1592A>T
ENST00000366578.5:c.2187A>T	ENSP00000355537.4:p.Thr729=
ENST00000461367.1:n.396A>T
ENST00000542672.5:c.2187A>T	ENSP00000443495.1:p.Thr729=
ENST00000546208.5:c.1563A>T	ENSP00000438384.2:p.Thr521=
NM_001103.3:c.2187A>T	NP_001094.1:p.Thr729=
NM_001278343.1:c.2187A>T	NP_001265272.1:p.Thr729=
NM_001278344.1:c.1563A>T	NP_001265273.1:p.Thr521=
NM_001278343.2:c.2187A>T	NP_001265272.1:p.Thr729=
NM_001103.4:c.2187A>T MANE Select	NP_001094.1:p.Thr729=
NM_001278344.2:c.1563A>T	NP_001265273.1:p.Thr521=