Canonical Allele Identifier: CA39741907

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 1102430
• ClinVar RCV Id: RCV001425767
• dbSNP Id: rs544721025
• gnomAD v2: 1-236918456-G-A
• gnomAD v3: 1-236755156-G-A
• gnomAD v4: 1-236755156-G-A
• MyVariant Identifiers: chr1:g.236918456G>A (hg19) ; chr1:g.236755156G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755156G>A , CM000663.2:g.236755156G>A	GRCh38
NC_000001.10:g.236918456G>A , CM000663.1:g.236918456G>A	GRCh37
NC_000001.9:g.234985079G>A	NCBI36
NG_009081.1:g.73687G>A
NG_009081.2:g.96016G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2112G>A	ENSP00000443495.1:p.Glu704=
ENST00000461367.2:n.408G>A
ENST00000492634.7:n.2042G>A
ENST00000682015.1:c.2019G>A	ENSP00000506961.1:p.Glu673=
ENST00000682692.1:n.3207G>A
ENST00000682966.1:n.7753G>A
ENST00000683111.1:c.*1398G>A	ENSP00000507913.1:n.*1398G>A
ENST00000683322.1:n.3464G>A
ENST00000683805.1:n.903G>A
ENST00000684050.1:n.4750G>A
ENST00000684122.1:n.259G>A
ENST00000684286.1:n.3667G>A
ENST00000684502.1:n.3409G>A
ENST00000684763.1:n.727G>A
ENST00000366578.6:c.2112G>A MANE Select	ENSP00000355537.4:p.Glu704=
ENST00000492634.6:n.2042G>A
ENST00000542672.6:c.2112G>A	ENSP00000443495.1:p.Glu704=
ENST00000651091.1:c.1802G>A	ENSP00000498677.1:n.1802G>A
ENST00000651275.1:c.2004G>A	ENSP00000498926.1:p.Glu668=
ENST00000651781.1:c.1192G>A
ENST00000651786.1:c.*1484G>A	ENSP00000498364.1:n.*1484G>A
ENST00000652096.1:c.*1517G>A	ENSP00000498896.1:n.*1517G>A
ENST00000366578.5:c.2112G>A	ENSP00000355537.4:p.Glu704=
ENST00000461367.1:n.321G>A
ENST00000542672.5:c.2112G>A	ENSP00000443495.1:p.Glu704=
ENST00000546208.5:c.1488G>A	ENSP00000438384.2:p.Glu496=
NM_001103.3:c.2112G>A	NP_001094.1:p.Glu704=
NM_001278343.1:c.2112G>A	NP_001265272.1:p.Glu704=
NM_001278344.1:c.1488G>A	NP_001265273.1:p.Glu496=
NM_001278343.2:c.2112G>A	NP_001265272.1:p.Glu704=
NM_001103.4:c.2112G>A MANE Select	NP_001094.1:p.Glu704=
NM_001278344.2:c.1488G>A	NP_001265273.1:p.Glu496=