Canonical Allele Identifier: CA1473347

Gene: ACTN2

Linked Data

• dbSNP Id: rs767487999
• ExAC: 1:236918453 G / A
• gnomAD v2: 1-236918453-G-A
• gnomAD v3: 1-236755153-G-A
• gnomAD v4: 1-236755153-G-A
• MyVariant Identifiers: chr1:g.236918453G>A (hg19) ; chr1:g.236755153G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755153G>A , CM000663.2:g.236755153G>A	GRCh38
NC_000001.10:g.236918453G>A , CM000663.1:g.236918453G>A	GRCh37
NC_000001.9:g.234985076G>A	NCBI36
NG_009081.1:g.73684G>A
NG_009081.2:g.96013G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2109G>A	ENSP00000443495.1:p.Gln703=
ENST00000461367.2:n.405G>A
ENST00000492634.7:n.2039G>A
ENST00000682015.1:c.2016G>A	ENSP00000506961.1:p.Gln672=
ENST00000682692.1:n.3204G>A
ENST00000682966.1:n.7750G>A
ENST00000683111.1:c.*1395G>A	ENSP00000507913.1:n.*1395G>A
ENST00000683322.1:n.3461G>A
ENST00000683805.1:n.900G>A
ENST00000684050.1:n.4747G>A
ENST00000684122.1:n.256G>A
ENST00000684286.1:n.3664G>A
ENST00000684502.1:n.3406G>A
ENST00000684763.1:n.724G>A
ENST00000366578.6:c.2109G>A MANE Select	ENSP00000355537.4:p.Gln703=
ENST00000492634.6:n.2039G>A
ENST00000542672.6:c.2109G>A	ENSP00000443495.1:p.Gln703=
ENST00000651091.1:c.1799G>A	ENSP00000498677.1:n.1799G>A
ENST00000651275.1:c.2001G>A	ENSP00000498926.1:p.Gln667=
ENST00000651781.1:c.1189G>A
ENST00000651786.1:c.*1481G>A	ENSP00000498364.1:n.*1481G>A
ENST00000652096.1:c.*1514G>A	ENSP00000498896.1:n.*1514G>A
ENST00000366578.5:c.2109G>A	ENSP00000355537.4:p.Gln703=
ENST00000461367.1:n.318G>A
ENST00000542672.5:c.2109G>A	ENSP00000443495.1:p.Gln703=
ENST00000546208.5:c.1485G>A	ENSP00000438384.2:p.Gln495=
NM_001103.3:c.2109G>A	NP_001094.1:p.Gln703=
NM_001278343.1:c.2109G>A	NP_001265272.1:p.Gln703=
NM_001278344.1:c.1485G>A	NP_001265273.1:p.Gln495=
NM_001278343.2:c.2109G>A	NP_001265272.1:p.Gln703=
NM_001103.4:c.2109G>A MANE Select	NP_001094.1:p.Gln703=
NM_001278344.2:c.1485G>A	NP_001265273.1:p.Gln495=