Canonical Allele Identifier: CA345387690

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236918455A>G (hg19) ; chr1:g.236755155A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755155A>G , CM000663.2:g.236755155A>G	GRCh38
NC_000001.10:g.236918455A>G , CM000663.1:g.236918455A>G	GRCh37
NC_000001.9:g.234985078A>G	NCBI36
NG_009081.1:g.73686A>G
NG_009081.2:g.96015A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2111A>G	ENSP00000443495.1:p.Glu704Gly
ENST00000461367.2:n.407A>G
ENST00000492634.7:n.2041A>G
ENST00000682015.1:c.2018A>G	ENSP00000506961.1:p.Glu673Gly
ENST00000682692.1:n.3206A>G
ENST00000682966.1:n.7752A>G
ENST00000683111.1:c.*1397A>G	ENSP00000507913.1:n.*1397A>G
ENST00000683322.1:n.3463A>G
ENST00000683805.1:n.902A>G
ENST00000684050.1:n.4749A>G
ENST00000684122.1:n.258A>G
ENST00000684286.1:n.3666A>G
ENST00000684502.1:n.3408A>G
ENST00000684763.1:n.726A>G
ENST00000366578.6:c.2111A>G MANE Select	ENSP00000355537.4:p.Glu704Gly
ENST00000492634.6:n.2041A>G
ENST00000542672.6:c.2111A>G	ENSP00000443495.1:p.Glu704Gly
ENST00000651091.1:c.1801A>G	ENSP00000498677.1:n.1801A>G
ENST00000651275.1:c.2003A>G	ENSP00000498926.1:p.Glu668Gly
ENST00000651781.1:c.1191A>G
ENST00000651786.1:c.*1483A>G	ENSP00000498364.1:n.*1483A>G
ENST00000652096.1:c.*1516A>G	ENSP00000498896.1:n.*1516A>G
ENST00000366578.5:c.2111A>G	ENSP00000355537.4:p.Glu704Gly
ENST00000461367.1:n.320A>G
ENST00000542672.5:c.2111A>G	ENSP00000443495.1:p.Glu704Gly
ENST00000546208.5:c.1487A>G	ENSP00000438384.2:p.Glu496Gly
NM_001103.3:c.2111A>G	NP_001094.1:p.Glu704Gly
NM_001278343.1:c.2111A>G	NP_001265272.1:p.Glu704Gly
NM_001278344.1:c.1487A>G	NP_001265273.1:p.Glu496Gly
NM_001278343.2:c.2111A>G	NP_001265272.1:p.Glu704Gly
NM_001103.4:c.2111A>G MANE Select	NP_001094.1:p.Glu704Gly
NM_001278344.2:c.1487A>G	NP_001265273.1:p.Glu496Gly