Canonical Allele Identifier: CA423810055

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236917351C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236754051C>G , CM000663.2:g.236754051C>G	GRCh38
NC_000001.10:g.236917351C>G , CM000663.1:g.236917351C>G	GRCh37
NC_000001.9:g.234983974C>G	NCBI36
NG_009081.1:g.72582C>G
NG_009081.2:g.94911C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1944C>G	ENSP00000443495.1:p.Ala648=
ENST00000461367.2:n.240C>G
ENST00000492634.7:n.1874C>G
ENST00000682015.1:c.1851C>G	ENSP00000506961.1:p.Ala617=
ENST00000682692.1:n.3039C>G
ENST00000682966.1:n.7585C>G
ENST00000683111.1:c.*1230C>G	ENSP00000507913.1:n.*1230C>G
ENST00000683322.1:n.3296C>G
ENST00000684050.1:n.4582C>G
ENST00000684286.1:n.3499C>G
ENST00000684502.1:n.3241C>G
ENST00000684763.1:n.559C>G
ENST00000366578.6:c.1944C>G MANE Select	ENSP00000355537.4:p.Ala648=
ENST00000492634.6:n.1874C>G
ENST00000542672.6:c.1944C>G	ENSP00000443495.1:p.Ala648=
ENST00000651091.1:c.1634C>G	ENSP00000498677.1:n.1634C>G
ENST00000651275.1:c.1836C>G	ENSP00000498926.1:p.Ala612=
ENST00000651781.1:c.1024C>G
ENST00000651786.1:c.*1316C>G	ENSP00000498364.1:n.*1316C>G
ENST00000652096.1:c.*1349C>G	ENSP00000498896.1:n.*1349C>G
ENST00000366578.5:c.1944C>G	ENSP00000355537.4:p.Ala648=
ENST00000461367.1:n.153C>G
ENST00000542672.5:c.1944C>G	ENSP00000443495.1:p.Ala648=
ENST00000546208.5:c.1320C>G	ENSP00000438384.2:p.Ala440=
NM_001103.3:c.1944C>G	NP_001094.1:p.Ala648=
NM_001278343.1:c.1944C>G	NP_001265272.1:p.Ala648=
NM_001278344.1:c.1320C>G	NP_001265273.1:p.Ala440=
NM_001278343.2:c.1944C>G	NP_001265272.1:p.Ala648=
NM_001103.4:c.1944C>G MANE Select	NP_001094.1:p.Ala648=
NM_001278344.2:c.1320C>G	NP_001265273.1:p.Ala440=