Canonical Allele Identifier: CA423810024

Gene: ACTN2

Linked Data

• gnomAD v4: 1-236754027-C-A
• MyVariant Identifiers: chr1:g.236917327C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236754027C>A , CM000663.2:g.236754027C>A	GRCh38
NC_000001.10:g.236917327C>A , CM000663.1:g.236917327C>A	GRCh37
NC_000001.9:g.234983950C>A	NCBI36
NG_009081.1:g.72558C>A
NG_009081.2:g.94887C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1920C>A	ENSP00000443495.1:p.Arg640=
ENST00000461367.2:n.216C>A
ENST00000492634.7:n.1850C>A
ENST00000682015.1:c.1827C>A	ENSP00000506961.1:p.Arg609=
ENST00000682692.1:n.3015C>A
ENST00000682966.1:n.7561C>A
ENST00000683111.1:c.*1206C>A	ENSP00000507913.1:n.*1206C>A
ENST00000683322.1:n.3272C>A
ENST00000684050.1:n.4558C>A
ENST00000684286.1:n.3475C>A
ENST00000684502.1:n.3217C>A
ENST00000684763.1:n.535C>A
ENST00000366578.6:c.1920C>A MANE Select	ENSP00000355537.4:p.Arg640=
ENST00000492634.6:n.1850C>A
ENST00000542672.6:c.1920C>A	ENSP00000443495.1:p.Arg640=
ENST00000651091.1:c.1610C>A	ENSP00000498677.1:n.1610C>A
ENST00000651275.1:c.1812C>A	ENSP00000498926.1:p.Arg604=
ENST00000651781.1:c.1000C>A
ENST00000651786.1:c.*1292C>A	ENSP00000498364.1:n.*1292C>A
ENST00000652096.1:c.*1325C>A	ENSP00000498896.1:n.*1325C>A
ENST00000366578.5:c.1920C>A	ENSP00000355537.4:p.Arg640=
ENST00000461367.1:n.129C>A
ENST00000542672.5:c.1920C>A	ENSP00000443495.1:p.Arg640=
ENST00000546208.5:c.1296C>A	ENSP00000438384.2:p.Arg432=
NM_001103.3:c.1920C>A	NP_001094.1:p.Arg640=
NM_001278343.1:c.1920C>A	NP_001265272.1:p.Arg640=
NM_001278344.1:c.1296C>A	NP_001265273.1:p.Arg432=
NM_001278343.2:c.1920C>A	NP_001265272.1:p.Arg640=
NM_001103.4:c.1920C>A MANE Select	NP_001094.1:p.Arg640=
NM_001278344.2:c.1296C>A	NP_001265273.1:p.Arg432=