Canonical Allele Identifier: CA423810422

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236920800A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236757500A>C , CM000663.2:g.236757500A>C	GRCh38
NC_000001.10:g.236920800A>C , CM000663.1:g.236920800A>C	GRCh37
NC_000001.9:g.234987423A>C	NCBI36
NG_009081.1:g.76031A>C
NG_009081.2:g.98360A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000542672.7:c.2169A>C	ENSP00000443495.1:p.Gly723=
ENST00000461367.2:n.465A>C
ENST00000492634.7:n.2099A>C
ENST00000682015.1:c.2076A>C	ENSP00000506961.1:p.Gly692=
ENST00000682490.1:n.87A>C
ENST00000682692.1:n.3264A>C
ENST00000682966.1:n.7810A>C
ENST00000683111.1:c.*1455A>C	ENSP00000507913.1:n.*1455A>C
ENST00000683322.1:n.3521A>C
ENST00000683805.1:n.960A>C
ENST00000684050.1:n.4807A>C
ENST00000684122.1:n.316A>C
ENST00000684286.1:n.3724A>C
ENST00000684502.1:n.3466A>C
ENST00000684763.1:n.784A>C
ENST00000366578.6:c.2169A>C MANE Select	ENSP00000355537.4:p.Gly723=
ENST00000492634.6:n.2099A>C
ENST00000542672.6:c.2169A>C	ENSP00000443495.1:p.Gly723=
ENST00000651091.1:c.1859A>C	ENSP00000498677.1:n.1859A>C
ENST00000651275.1:c.2061A>C	ENSP00000498926.1:p.Gly687=
ENST00000651781.1:c.1249A>C
ENST00000651786.1:c.*1541A>C	ENSP00000498364.1:n.*1541A>C
ENST00000652096.1:c.*1574A>C	ENSP00000498896.1:n.*1574A>C
ENST00000366578.5:c.2169A>C	ENSP00000355537.4:p.Gly723=
ENST00000461367.1:n.378A>C
ENST00000542672.5:c.2169A>C	ENSP00000443495.1:p.Gly723=
ENST00000546208.5:c.1545A>C	ENSP00000438384.2:p.Gly515=
NM_001103.3:c.2169A>C	NP_001094.1:p.Gly723=
NM_001278343.1:c.2169A>C	NP_001265272.1:p.Gly723=
NM_001278344.1:c.1545A>C	NP_001265273.1:p.Gly515=
NM_001278343.2:c.2169A>C	NP_001265272.1:p.Gly723=
NM_001103.4:c.2169A>C MANE Select	NP_001094.1:p.Gly723=
NM_001278344.2:c.1545A>C	NP_001265273.1:p.Gly515=