Canonical Allele Identifier: CA423811129

Gene: ACTN2

Linked Data

• gnomAD v4: 1-236762508-G-A
• MyVariant Identifiers: chr1:g.236925808G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762508G>A , CM000663.2:g.236762508G>A	GRCh38
NC_000001.10:g.236925808G>A , CM000663.1:g.236925808G>A	GRCh37
NC_000001.9:g.234992431G>A	NCBI36
NG_009081.1:g.81039G>A
NG_009081.2:g.103368G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2574G>A	ENSP00000443495.1:p.Gln858=
ENST00000461367.2:n.870G>A
ENST00000492634.7:n.2504G>A
ENST00000682015.1:c.2481G>A	ENSP00000506961.1:p.Gln827=
ENST00000682490.1:n.492G>A
ENST00000682692.1:n.3669G>A
ENST00000682966.1:n.8215G>A
ENST00000683111.1:c.*1860G>A	ENSP00000507913.1:n.*1860G>A
ENST00000683322.1:n.3926G>A
ENST00000683805.1:n.1365G>A
ENST00000684050.1:n.5212G>A
ENST00000684122.1:n.2008G>A
ENST00000684286.1:n.4129G>A
ENST00000684502.1:n.3871G>A
ENST00000684763.1:n.1189G>A
ENST00000366578.6:c.2574G>A MANE Select	ENSP00000355537.4:p.Gln858=
ENST00000492634.6:n.2504G>A
ENST00000542672.6:c.2574G>A	ENSP00000443495.1:p.Gln858=
ENST00000651091.1:c.2264G>A	ENSP00000498677.1:n.2264G>A
ENST00000651275.1:c.2466G>A	ENSP00000498926.1:p.Gln822=
ENST00000651781.1:c.1654G>A
ENST00000651786.1:c.*1946G>A	ENSP00000498364.1:n.*1946G>A
ENST00000652096.1:c.*1979G>A	ENSP00000498896.1:n.*1979G>A
ENST00000366578.5:c.2574G>A	ENSP00000355537.4:p.Gln858=
ENST00000461367.1:n.783G>A
ENST00000542672.5:c.2574G>A	ENSP00000443495.1:p.Gln858=
ENST00000546208.5:c.1950G>A	ENSP00000438384.2:p.Gln650=
NM_001103.3:c.2574G>A	NP_001094.1:p.Gln858=
NM_001278343.1:c.2574G>A	NP_001265272.1:p.Gln858=
NM_001278344.1:c.1950G>A	NP_001265273.1:p.Gln650=
NM_001278343.2:c.2574G>A	NP_001265272.1:p.Gln858=
NM_001103.4:c.2574G>A MANE Select	NP_001094.1:p.Gln858=
NM_001278344.2:c.1950G>A	NP_001265273.1:p.Gln650=