Canonical Allele Identifier: CA345383681

Gene: ACTN2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000542672.7:c.1408G>A	ENSP00000443495.1:p.Glu470Lys
ENST00000492634.7:n.1338G>A
ENST00000682015.1:c.1315G>A	ENSP00000506961.1:p.Glu439Lys
ENST00000682692.1:n.1155G>A
ENST00000682966.1:n.7049G>A
ENST00000683111.1:c.*694G>A	ENSP00000507913.1:n.*694G>A
ENST00000683322.1:n.2760G>A
ENST00000684050.1:n.4046G>A
ENST00000684286.1:n.2963G>A
ENST00000684502.1:n.1357G>A
ENST00000366578.6:c.1408G>A MANE Select	ENSP00000355537.4:p.Glu470Lys
ENST00000492634.6:n.1338G>A
ENST00000542672.6:c.1408G>A	ENSP00000443495.1:p.Glu470Lys
ENST00000651091.1:c.1098G>A	ENSP00000498677.1:n.1098G>A
ENST00000651275.1:c.1300G>A	ENSP00000498926.1:p.Glu434Lys
ENST00000651781.1:c.488G>A
ENST00000651786.1:c.*780G>A	ENSP00000498364.1:n.*780G>A
ENST00000652096.1:c.*813G>A	ENSP00000498896.1:n.*813G>A
ENST00000366578.5:c.1408G>A	ENSP00000355537.4:p.Glu470Lys
ENST00000542672.5:c.1408G>A	ENSP00000443495.1:p.Glu470Lys
ENST00000546208.5:c.784G>A	ENSP00000438384.2:p.Glu262Lys
NM_001103.3:c.1408G>A	NP_001094.1:p.Glu470Lys
NM_001278343.1:c.1408G>A	NP_001265272.1:p.Glu470Lys
NM_001278344.1:c.784G>A	NP_001265273.1:p.Glu262Lys
NM_001278343.2:c.1408G>A	NP_001265272.1:p.Glu470Lys
NM_001103.4:c.1408G>A MANE Select	NP_001094.1:p.Glu470Lys
NM_001278344.2:c.784G>A	NP_001265273.1:p.Glu262Lys