Canonical Allele Identifier: CA423809572

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236911045G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236747745G>T , CM000663.2:g.236747745G>T	GRCh38
NC_000001.10:g.236911045G>T , CM000663.1:g.236911045G>T	GRCh37
NC_000001.9:g.234977668G>T	NCBI36
NG_009081.1:g.66276G>T
NG_009081.2:g.88605G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1485G>T	ENSP00000443495.1:p.Thr495=
ENST00000492634.7:n.1415G>T
ENST00000682015.1:c.1392G>T	ENSP00000506961.1:p.Thr464=
ENST00000682692.1:n.1232G>T
ENST00000682966.1:n.7126G>T
ENST00000683111.1:c.*771G>T	ENSP00000507913.1:n.*771G>T
ENST00000683322.1:n.2837G>T
ENST00000684050.1:n.4123G>T
ENST00000684286.1:n.3040G>T
ENST00000684502.1:n.1434G>T
ENST00000366578.6:c.1485G>T MANE Select	ENSP00000355537.4:p.Thr495=
ENST00000492634.6:n.1415G>T
ENST00000542672.6:c.1485G>T	ENSP00000443495.1:p.Thr495=
ENST00000651091.1:c.1175G>T	ENSP00000498677.1:n.1175G>T
ENST00000651275.1:c.1377G>T	ENSP00000498926.1:p.Thr459=
ENST00000651781.1:c.565G>T
ENST00000651786.1:c.*857G>T	ENSP00000498364.1:n.*857G>T
ENST00000652096.1:c.*890G>T	ENSP00000498896.1:n.*890G>T
ENST00000366578.5:c.1485G>T	ENSP00000355537.4:p.Thr495=
ENST00000492101.1:n.46G>T
ENST00000542672.5:c.1485G>T	ENSP00000443495.1:p.Thr495=
ENST00000546208.5:c.861G>T	ENSP00000438384.2:p.Thr287=
NM_001103.3:c.1485G>T	NP_001094.1:p.Thr495=
NM_001278343.1:c.1485G>T	NP_001265272.1:p.Thr495=
NM_001278344.1:c.861G>T	NP_001265273.1:p.Thr287=
NM_001278343.2:c.1485G>T	NP_001265272.1:p.Thr495=
NM_001103.4:c.1485G>T MANE Select	NP_001094.1:p.Thr495=
NM_001278344.2:c.861G>T	NP_001265273.1:p.Thr287=