Canonical Allele Identifier: CA1473243

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 810757
• ClinVar RCV Id: RCV000999598 ; RCV001202486 ; RCV001766819 ; RCV001799021 ; RCV002481796
• dbSNP Id: rs200631005
• ExAC: 1:236914861 A / C
• gnomAD v2: 1-236914861-A-C
• gnomAD v4: 1-236751561-A-C
• MyVariant Identifiers: chr1:g.236914861A>C (hg19) ; chr1:g.236751561A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236751561A>C , CM000663.2:g.236751561A>C	GRCh38
NC_000001.10:g.236914861A>C , CM000663.1:g.236914861A>C	GRCh37
NC_000001.9:g.234981484A>C	NCBI36
NG_009081.1:g.70092A>C
NG_009081.2:g.92421A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000542672.7:c.1748A>C	ENSP00000443495.1:p.Glu583Ala
ENST00000492634.7:n.1678A>C
ENST00000682015.1:c.1655A>C	ENSP00000506961.1:p.Glu552Ala
ENST00000682692.1:n.2843A>C
ENST00000682966.1:n.7389A>C
ENST00000683111.1:c.*1034A>C	ENSP00000507913.1:n.*1034A>C
ENST00000683322.1:n.3100A>C
ENST00000684050.1:n.4386A>C
ENST00000684286.1:n.3303A>C
ENST00000684502.1:n.3045A>C
ENST00000684763.1:n.363A>C
ENST00000366578.6:c.1748A>C MANE Select	ENSP00000355537.4:p.Glu583Ala
ENST00000492634.6:n.1678A>C
ENST00000542672.6:c.1748A>C	ENSP00000443495.1:p.Glu583Ala
ENST00000651091.1:c.1438A>C	ENSP00000498677.1:n.1438A>C
ENST00000651275.1:c.1640A>C	ENSP00000498926.1:p.Glu547Ala
ENST00000651781.1:c.828A>C
ENST00000651786.1:c.*1120A>C	ENSP00000498364.1:n.*1120A>C
ENST00000652096.1:c.*1153A>C	ENSP00000498896.1:n.*1153A>C
ENST00000366578.5:c.1748A>C	ENSP00000355537.4:p.Glu583Ala
ENST00000542672.5:c.1748A>C	ENSP00000443495.1:p.Glu583Ala
ENST00000546208.5:c.1124A>C	ENSP00000438384.2:p.Glu375Ala
NM_001103.3:c.1748A>C	NP_001094.1:p.Glu583Ala
NM_001278343.1:c.1748A>C	NP_001265272.1:p.Glu583Ala
NM_001278344.1:c.1124A>C	NP_001265273.1:p.Glu375Ala
NM_001278343.2:c.1748A>C	NP_001265272.1:p.Glu583Ala
NM_001103.4:c.1748A>C MANE Select	NP_001094.1:p.Glu583Ala
NM_001278344.2:c.1124A>C	NP_001265273.1:p.Glu375Ala