Canonical Allele Identifier: CA345386898

Gene: ACTN2

Linked Data

• dbSNP Id: rs1659478246
• MyVariant Identifiers: chr1:g.236917328C>A (hg19) ; chr1:g.236754028C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236754028C>A , CM000663.2:g.236754028C>A	GRCh38
NC_000001.10:g.236917328C>A , CM000663.1:g.236917328C>A	GRCh37
NC_000001.9:g.234983951C>A	NCBI36
NG_009081.1:g.72559C>A
NG_009081.2:g.94888C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1921C>A	ENSP00000443495.1:p.Gln641Lys
ENST00000461367.2:n.217C>A
ENST00000492634.7:n.1851C>A
ENST00000682015.1:c.1828C>A	ENSP00000506961.1:p.Gln610Lys
ENST00000682692.1:n.3016C>A
ENST00000682966.1:n.7562C>A
ENST00000683111.1:c.*1207C>A	ENSP00000507913.1:n.*1207C>A
ENST00000683322.1:n.3273C>A
ENST00000684050.1:n.4559C>A
ENST00000684286.1:n.3476C>A
ENST00000684502.1:n.3218C>A
ENST00000684763.1:n.536C>A
ENST00000366578.6:c.1921C>A MANE Select	ENSP00000355537.4:p.Gln641Lys
ENST00000492634.6:n.1851C>A
ENST00000542672.6:c.1921C>A	ENSP00000443495.1:p.Gln641Lys
ENST00000651091.1:c.1611C>A	ENSP00000498677.1:n.1611C>A
ENST00000651275.1:c.1813C>A	ENSP00000498926.1:p.Gln605Lys
ENST00000651781.1:c.1001C>A
ENST00000651786.1:c.*1293C>A	ENSP00000498364.1:n.*1293C>A
ENST00000652096.1:c.*1326C>A	ENSP00000498896.1:n.*1326C>A
ENST00000366578.5:c.1921C>A	ENSP00000355537.4:p.Gln641Lys
ENST00000461367.1:n.130C>A
ENST00000542672.5:c.1921C>A	ENSP00000443495.1:p.Gln641Lys
ENST00000546208.5:c.1297C>A	ENSP00000438384.2:p.Gln433Lys
NM_001103.3:c.1921C>A	NP_001094.1:p.Gln641Lys
NM_001278343.1:c.1921C>A	NP_001265272.1:p.Gln641Lys
NM_001278344.1:c.1297C>A	NP_001265273.1:p.Gln433Lys
NM_001278343.2:c.1921C>A	NP_001265272.1:p.Gln641Lys
NM_001103.4:c.1921C>A MANE Select	NP_001094.1:p.Gln641Lys
NM_001278344.2:c.1297C>A	NP_001265273.1:p.Gln433Lys