Canonical Allele Identifier: CA345383683

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236910968G>C (hg19) ; chr1:g.236747668G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236747668G>C , CM000663.2:g.236747668G>C	GRCh38
NC_000001.10:g.236910968G>C , CM000663.1:g.236910968G>C	GRCh37
NC_000001.9:g.234977591G>C	NCBI36
NG_009081.1:g.66199G>C
NG_009081.2:g.88528G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000542672.7:c.1408G>C	ENSP00000443495.1:p.Glu470Gln
ENST00000492634.7:n.1338G>C
ENST00000682015.1:c.1315G>C	ENSP00000506961.1:p.Glu439Gln
ENST00000682692.1:n.1155G>C
ENST00000682966.1:n.7049G>C
ENST00000683111.1:c.*694G>C	ENSP00000507913.1:n.*694G>C
ENST00000683322.1:n.2760G>C
ENST00000684050.1:n.4046G>C
ENST00000684286.1:n.2963G>C
ENST00000684502.1:n.1357G>C
ENST00000366578.6:c.1408G>C MANE Select	ENSP00000355537.4:p.Glu470Gln
ENST00000492634.6:n.1338G>C
ENST00000542672.6:c.1408G>C	ENSP00000443495.1:p.Glu470Gln
ENST00000651091.1:c.1098G>C	ENSP00000498677.1:n.1098G>C
ENST00000651275.1:c.1300G>C	ENSP00000498926.1:p.Glu434Gln
ENST00000651781.1:c.488G>C
ENST00000651786.1:c.*780G>C	ENSP00000498364.1:n.*780G>C
ENST00000652096.1:c.*813G>C	ENSP00000498896.1:n.*813G>C
ENST00000366578.5:c.1408G>C	ENSP00000355537.4:p.Glu470Gln
ENST00000542672.5:c.1408G>C	ENSP00000443495.1:p.Glu470Gln
ENST00000546208.5:c.784G>C	ENSP00000438384.2:p.Glu262Gln
NM_001103.3:c.1408G>C	NP_001094.1:p.Glu470Gln
NM_001278343.1:c.1408G>C	NP_001265272.1:p.Glu470Gln
NM_001278344.1:c.784G>C	NP_001265273.1:p.Glu262Gln
NM_001278343.2:c.1408G>C	NP_001265272.1:p.Glu470Gln
NM_001103.4:c.1408G>C MANE Select	NP_001094.1:p.Glu470Gln
NM_001278344.2:c.784G>C	NP_001265273.1:p.Glu262Gln