Canonical Allele Identifier: CA345384161

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236911052C>G (hg19) ; chr1:g.236747752C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236747752C>G , CM000663.2:g.236747752C>G	GRCh38
NC_000001.10:g.236911052C>G , CM000663.1:g.236911052C>G	GRCh37
NC_000001.9:g.234977675C>G	NCBI36
NG_009081.1:g.66283C>G
NG_009081.2:g.88612C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1492C>G	ENSP00000443495.1:p.Gln498Glu
ENST00000492634.7:n.1422C>G
ENST00000682015.1:c.1399C>G	ENSP00000506961.1:p.Gln467Glu
ENST00000682692.1:n.1239C>G
ENST00000682966.1:n.7133C>G
ENST00000683111.1:c.*778C>G	ENSP00000507913.1:n.*778C>G
ENST00000683322.1:n.2844C>G
ENST00000684050.1:n.4130C>G
ENST00000684286.1:n.3047C>G
ENST00000684502.1:n.1441C>G
ENST00000366578.6:c.1492C>G MANE Select	ENSP00000355537.4:p.Gln498Glu
ENST00000492634.6:n.1422C>G
ENST00000542672.6:c.1492C>G	ENSP00000443495.1:p.Gln498Glu
ENST00000651091.1:c.1182C>G	ENSP00000498677.1:n.1182C>G
ENST00000651275.1:c.1384C>G	ENSP00000498926.1:p.Gln462Glu
ENST00000651781.1:c.572C>G
ENST00000651786.1:c.*864C>G	ENSP00000498364.1:n.*864C>G
ENST00000652096.1:c.*897C>G	ENSP00000498896.1:n.*897C>G
ENST00000366578.5:c.1492C>G	ENSP00000355537.4:p.Gln498Glu
ENST00000492101.1:n.53C>G
ENST00000542672.5:c.1492C>G	ENSP00000443495.1:p.Gln498Glu
ENST00000546208.5:c.868C>G	ENSP00000438384.2:p.Gln290Glu
NM_001103.3:c.1492C>G	NP_001094.1:p.Gln498Glu
NM_001278343.1:c.1492C>G	NP_001265272.1:p.Gln498Glu
NM_001278344.1:c.868C>G	NP_001265273.1:p.Gln290Glu
NM_001278343.2:c.1492C>G	NP_001265272.1:p.Gln498Glu
NM_001103.4:c.1492C>G MANE Select	NP_001094.1:p.Gln498Glu
NM_001278344.2:c.868C>G	NP_001265273.1:p.Gln290Glu