Canonical Allele Identifier: CA345384213

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236911065A>G (hg19) ; chr1:g.236747765A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236747765A>G , CM000663.2:g.236747765A>G	GRCh38
NC_000001.10:g.236911065A>G , CM000663.1:g.236911065A>G	GRCh37
NC_000001.9:g.234977688A>G	NCBI36
NG_009081.1:g.66296A>G
NG_009081.2:g.88625A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1505A>G	ENSP00000443495.1:p.Glu502Gly
ENST00000492634.7:n.1435A>G
ENST00000682015.1:c.1412A>G	ENSP00000506961.1:p.Glu471Gly
ENST00000682692.1:n.1252A>G
ENST00000682966.1:n.7146A>G
ENST00000683111.1:c.*791A>G	ENSP00000507913.1:n.*791A>G
ENST00000683322.1:n.2857A>G
ENST00000684050.1:n.4143A>G
ENST00000684286.1:n.3060A>G
ENST00000684502.1:n.1454A>G
ENST00000366578.6:c.1505A>G MANE Select	ENSP00000355537.4:p.Glu502Gly
ENST00000492634.6:n.1435A>G
ENST00000542672.6:c.1505A>G	ENSP00000443495.1:p.Glu502Gly
ENST00000651091.1:c.1195A>G	ENSP00000498677.1:n.1195A>G
ENST00000651275.1:c.1397A>G	ENSP00000498926.1:p.Glu466Gly
ENST00000651781.1:c.585A>G
ENST00000651786.1:c.*877A>G	ENSP00000498364.1:n.*877A>G
ENST00000652096.1:c.*910A>G	ENSP00000498896.1:n.*910A>G
ENST00000366578.5:c.1505A>G	ENSP00000355537.4:p.Glu502Gly
ENST00000492101.1:n.66A>G
ENST00000542672.5:c.1505A>G	ENSP00000443495.1:p.Glu502Gly
ENST00000546208.5:c.881A>G	ENSP00000438384.2:p.Glu294Gly
NM_001103.3:c.1505A>G	NP_001094.1:p.Glu502Gly
NM_001278343.1:c.1505A>G	NP_001265272.1:p.Glu502Gly
NM_001278344.1:c.881A>G	NP_001265273.1:p.Glu294Gly
NM_001278343.2:c.1505A>G	NP_001265272.1:p.Glu502Gly
NM_001103.4:c.1505A>G MANE Select	NP_001094.1:p.Glu502Gly
NM_001278344.2:c.881A>G	NP_001265273.1:p.Glu294Gly