Canonical Allele Identifier: CA39748497

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 875400
• ClinVar RCV Id: RCV001099217
• dbSNP Id: rs1032334316
• gnomAD v2: 1-236926025-A-G
• gnomAD v3: 1-236762725-A-G
• gnomAD v4: 1-236762725-A-G
• MyVariant Identifiers: chr1:g.236926025A>G (hg19) ; chr1:g.236762725A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762725A>G , CM000663.2:g.236762725A>G	GRCh38
NC_000001.10:g.236926025A>G , CM000663.1:g.236926025A>G	GRCh37
NC_000001.9:g.234992648A>G	NCBI36
NG_009081.1:g.81256A>G
NG_009081.2:g.103585A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.*106A>G	ENSP00000443495.1:n.*106A>G
ENST00000461367.2:n.1087A>G
ENST00000492634.7:n.2721A>G
ENST00000682015.1:c.*106A>G	ENSP00000506961.1:n.*106A>G
ENST00000682490.1:n.709A>G
ENST00000682692.1:n.3886A>G
ENST00000682966.1:n.8432A>G
ENST00000683111.1:c.*2077A>G	ENSP00000507913.1:n.*2077A>G
ENST00000683322.1:n.4143A>G
ENST00000683805.1:n.1582A>G
ENST00000684050.1:n.5429A>G
ENST00000684122.1:n.2225A>G
ENST00000684286.1:n.4346A>G
ENST00000684502.1:n.4088A>G
ENST00000684763.1:n.1406A>G
ENST00000366578.6:c.*106A>G MANE Select	ENSP00000355537.4:n.*106A>G
ENST00000492634.6:n.2721A>G
ENST00000542672.6:c.*106A>G	ENSP00000443495.1:n.*106A>G
ENST00000651275.1:c.2683A>G	ENSP00000498926.1:n.2683A>G
ENST00000651781.1:c.1871A>G
ENST00000652096.1:c.*2196A>G	ENSP00000498896.1:n.*2196A>G
ENST00000366578.5:c.*106A>G	ENSP00000355537.4:n.*106A>G
ENST00000542672.5:c.*106A>G	ENSP00000443495.1:n.*106A>G
ENST00000546208.5:c.*106A>G	ENSP00000438384.2:n.*106A>G
NM_001103.3:c.*106A>G	NP_001094.1:n.*106A>G
NM_001278343.1:c.*106A>G	NP_001265272.1:n.*106A>G
NM_001278344.1:c.*106A>G	NP_001265273.1:n.*106A>G
NM_001278343.2:c.*106A>G	NP_001265272.1:n.*106A>G
NM_001103.4:c.*106A>G MANE Select	NP_001094.1:n.*106A>G
NM_001278344.2:c.*106A>G	NP_001265273.1:n.*106A>G