Canonical Allele Identifier: CA335037
Gene: ACTN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 201644
ClinVar RCV Id: RCV000183267 RCV001203257 RCV002408804
dbSNP Id: rs772909106
ExAC: 1:236917326 G / A
gnomAD v2: 1-236917326-G-A
gnomAD v3: 1-236754026-G-A
gnomAD v4: 1-236754026-G-A
COSMIC: COSM4652233 COSM4652234
MyVariant Identifiers: chr1:g.236917326G>A (hg19) chr1:g.236754026G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236754026G>A , CM000663.2:g.236754026G>A GRCh38
NC_000001.10:g.236917326G>A , CM000663.1:g.236917326G>A GRCh37
NC_000001.9:g.234983949G>A NCBI36
NG_009081.1:g.72557G>A
NG_009081.2:g.94886G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000542672.7:c.1919G>A ENSP00000443495.1:p.Arg640His
ENST00000461367.2:n.215G>A
ENST00000492634.7:n.1849G>A
ENST00000682015.1:c.1826G>A ENSP00000506961.1:p.Arg609His
ENST00000682692.1:n.3014G>A
ENST00000682966.1:n.7560G>A
ENST00000683111.1:c.*1205G>A ENSP00000507913.1:n.*1205G>A
ENST00000683322.1:n.3271G>A
ENST00000684050.1:n.4557G>A
ENST00000684286.1:n.3474G>A
ENST00000684502.1:n.3216G>A
ENST00000684763.1:n.534G>A
ENST00000366578.6:c.1919G>A MANE Select ENSP00000355537.4:p.Arg640His
ENST00000492634.6:n.1849G>A
ENST00000542672.6:c.1919G>A ENSP00000443495.1:p.Arg640His
ENST00000651091.1:c.1609G>A ENSP00000498677.1:n.1609G>A
ENST00000651275.1:c.1811G>A ENSP00000498926.1:p.Arg604His
ENST00000651781.1:c.999G>A
ENST00000651786.1:c.*1291G>A ENSP00000498364.1:n.*1291G>A
ENST00000652096.1:c.*1324G>A ENSP00000498896.1:n.*1324G>A
ENST00000366578.5:c.1919G>A ENSP00000355537.4:p.Arg640His
ENST00000461367.1:n.128G>A
ENST00000542672.5:c.1919G>A ENSP00000443495.1:p.Arg640His
ENST00000546208.5:c.1295G>A ENSP00000438384.2:p.Arg432His
NM_001103.3:c.1919G>A NP_001094.1:p.Arg640His
NM_001278343.1:c.1919G>A NP_001265272.1:p.Arg640His
NM_001278344.1:c.1295G>A NP_001265273.1:p.Arg432His
NM_001278343.2:c.1919G>A NP_001265272.1:p.Arg640His
NM_001103.4:c.1919G>A MANE Select NP_001094.1:p.Arg640His
NM_001278344.2:c.1295G>A NP_001265273.1:p.Arg432His
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