Canonical Allele Identifier: CA423810147

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236918342G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755042G>A , CM000663.2:g.236755042G>A	GRCh38
NC_000001.10:g.236918342G>A , CM000663.1:g.236918342G>A	GRCh37
NC_000001.9:g.234984965G>A	NCBI36
NG_009081.1:g.73573G>A
NG_009081.2:g.95902G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1998G>A	ENSP00000443495.1:p.Gln666=
ENST00000461367.2:n.294G>A
ENST00000492634.7:n.1928G>A
ENST00000682015.1:c.1905G>A	ENSP00000506961.1:p.Gln635=
ENST00000682692.1:n.3093G>A
ENST00000682966.1:n.7639G>A
ENST00000683111.1:c.*1284G>A	ENSP00000507913.1:n.*1284G>A
ENST00000683322.1:n.3350G>A
ENST00000683805.1:n.789G>A
ENST00000684050.1:n.4636G>A
ENST00000684122.1:n.145G>A
ENST00000684286.1:n.3553G>A
ENST00000684502.1:n.3295G>A
ENST00000684763.1:n.613G>A
ENST00000366578.6:c.1998G>A MANE Select	ENSP00000355537.4:p.Gln666=
ENST00000492634.6:n.1928G>A
ENST00000542672.6:c.1998G>A	ENSP00000443495.1:p.Gln666=
ENST00000651091.1:c.1688G>A	ENSP00000498677.1:n.1688G>A
ENST00000651275.1:c.1890G>A	ENSP00000498926.1:p.Gln630=
ENST00000651781.1:c.1078G>A
ENST00000651786.1:c.*1370G>A	ENSP00000498364.1:n.*1370G>A
ENST00000652096.1:c.*1403G>A	ENSP00000498896.1:n.*1403G>A
ENST00000366578.5:c.1998G>A	ENSP00000355537.4:p.Gln666=
ENST00000461367.1:n.207G>A
ENST00000542672.5:c.1998G>A	ENSP00000443495.1:p.Gln666=
ENST00000546208.5:c.1374G>A	ENSP00000438384.2:p.Gln458=
NM_001103.3:c.1998G>A	NP_001094.1:p.Gln666=
NM_001278343.1:c.1998G>A	NP_001265272.1:p.Gln666=
NM_001278344.1:c.1374G>A	NP_001265273.1:p.Gln458=
NM_001278343.2:c.1998G>A	NP_001265272.1:p.Gln666=
NM_001103.4:c.1998G>A MANE Select	NP_001094.1:p.Gln666=
NM_001278344.2:c.1374G>A	NP_001265273.1:p.Gln458=