Canonical Allele Identifier: CA345383921

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236911011A>C (hg19) ; chr1:g.236747711A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236747711A>C , CM000663.2:g.236747711A>C	GRCh38
NC_000001.10:g.236911011A>C , CM000663.1:g.236911011A>C	GRCh37
NC_000001.9:g.234977634A>C	NCBI36
NG_009081.1:g.66242A>C
NG_009081.2:g.88571A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1451A>C	ENSP00000443495.1:p.Gln484Pro
ENST00000492634.7:n.1381A>C
ENST00000682015.1:c.1358A>C	ENSP00000506961.1:p.Gln453Pro
ENST00000682692.1:n.1198A>C
ENST00000682966.1:n.7092A>C
ENST00000683111.1:c.*737A>C	ENSP00000507913.1:n.*737A>C
ENST00000683322.1:n.2803A>C
ENST00000684050.1:n.4089A>C
ENST00000684286.1:n.3006A>C
ENST00000684502.1:n.1400A>C
ENST00000366578.6:c.1451A>C MANE Select	ENSP00000355537.4:p.Gln484Pro
ENST00000492634.6:n.1381A>C
ENST00000542672.6:c.1451A>C	ENSP00000443495.1:p.Gln484Pro
ENST00000651091.1:c.1141A>C	ENSP00000498677.1:n.1141A>C
ENST00000651275.1:c.1343A>C	ENSP00000498926.1:p.Gln448Pro
ENST00000651781.1:c.531A>C
ENST00000651786.1:c.*823A>C	ENSP00000498364.1:n.*823A>C
ENST00000652096.1:c.*856A>C	ENSP00000498896.1:n.*856A>C
ENST00000366578.5:c.1451A>C	ENSP00000355537.4:p.Gln484Pro
ENST00000492101.1:n.12A>C
ENST00000542672.5:c.1451A>C	ENSP00000443495.1:p.Gln484Pro
ENST00000546208.5:c.827A>C	ENSP00000438384.2:p.Gln276Pro
NM_001103.3:c.1451A>C	NP_001094.1:p.Gln484Pro
NM_001278343.1:c.1451A>C	NP_001265272.1:p.Gln484Pro
NM_001278344.1:c.827A>C	NP_001265273.1:p.Gln276Pro
NM_001278343.2:c.1451A>C	NP_001265272.1:p.Gln484Pro
NM_001103.4:c.1451A>C MANE Select	NP_001094.1:p.Gln484Pro
NM_001278344.2:c.827A>C	NP_001265273.1:p.Gln276Pro