Canonical Allele Identifier: CA1473338

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 2940974
• ClinVar RCV Id: RCV003792236
• dbSNP Id: rs746456711
• ExAC: 1:236918418 A / G
• gnomAD v2: 1-236918418-A-G
• gnomAD v4: 1-236755118-A-G
• MyVariant Identifiers: chr1:g.236918418A>G (hg19) ; chr1:g.236755118A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755118A>G , CM000663.2:g.236755118A>G	GRCh38
NC_000001.10:g.236918418A>G , CM000663.1:g.236918418A>G	GRCh37
NC_000001.9:g.234985041A>G	NCBI36
NG_009081.1:g.73649A>G
NG_009081.2:g.95978A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2074A>G	ENSP00000443495.1:p.Ile692Val
ENST00000461367.2:n.370A>G
ENST00000492634.7:n.2004A>G
ENST00000682015.1:c.1981A>G	ENSP00000506961.1:p.Ile661Val
ENST00000682692.1:n.3169A>G
ENST00000682966.1:n.7715A>G
ENST00000683111.1:c.*1360A>G	ENSP00000507913.1:n.*1360A>G
ENST00000683322.1:n.3426A>G
ENST00000683805.1:n.865A>G
ENST00000684050.1:n.4712A>G
ENST00000684122.1:n.221A>G
ENST00000684286.1:n.3629A>G
ENST00000684502.1:n.3371A>G
ENST00000684763.1:n.689A>G
ENST00000366578.6:c.2074A>G MANE Select	ENSP00000355537.4:p.Ile692Val
ENST00000492634.6:n.2004A>G
ENST00000542672.6:c.2074A>G	ENSP00000443495.1:p.Ile692Val
ENST00000651091.1:c.1764A>G	ENSP00000498677.1:n.1764A>G
ENST00000651275.1:c.1966A>G	ENSP00000498926.1:p.Ile656Val
ENST00000651781.1:c.1154A>G
ENST00000651786.1:c.*1446A>G	ENSP00000498364.1:n.*1446A>G
ENST00000652096.1:c.*1479A>G	ENSP00000498896.1:n.*1479A>G
ENST00000366578.5:c.2074A>G	ENSP00000355537.4:p.Ile692Val
ENST00000461367.1:n.283A>G
ENST00000542672.5:c.2074A>G	ENSP00000443495.1:p.Ile692Val
ENST00000546208.5:c.1450A>G	ENSP00000438384.2:p.Ile484Val
NM_001103.3:c.2074A>G	NP_001094.1:p.Ile692Val
NM_001278343.1:c.2074A>G	NP_001265272.1:p.Ile692Val
NM_001278344.1:c.1450A>G	NP_001265273.1:p.Ile484Val
NM_001278343.2:c.2074A>G	NP_001265272.1:p.Ile692Val
NM_001103.4:c.2074A>G MANE Select	NP_001094.1:p.Ile692Val
NM_001278344.2:c.1450A>G	NP_001265273.1:p.Ile484Val