Canonical Allele Identifier: CA2580090366

Gene: CHD2

Linked Data

• ClinVar Variation Id: 1803018
• ClinVar RCV Id: RCV002466315

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.92978261_92978262delinsTT , CM000677.2:g.92978261_92978262delinsTT	GRCh38
NC_000015.9:g.93521491_93521492delinsTT , CM000677.1:g.93521491_93521492delinsTT	GRCh37
NC_000015.8:g.91322495_91322496delinsTT	NCBI36
NG_012826.1:g.82941_82942delinsTT
NG_012826.2:g.82941_82942delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000625662.3:c.2112_2113delinsTT
ENST00000628118.2:c.1639_1640delinsTT
ENST00000700551.1:c.*1436_*1437delinsTT	ENSP00000515057.1:n.*1436_*1437delinsTT
ENST00000394196.9:c.2605_2606delinsTT MANE Select	ENSP00000377747.4:p.Ala869Phe
ENST00000635856.1:n.3177_3178delinsTT
ENST00000636306.1:n.165_166delinsTT
ENST00000636881.1:c.1976_1977delinsTT
ENST00000637572.1:n.3349_3350delinsTT
ENST00000394196.8:c.2605_2606delinsTT	ENSP00000377747.4:p.Ala869Phe
ENST00000625463.1:c.145_146delinsTT	ENSP00000486391.1:p.Ala49Phe
ENST00000626874.2:c.2605_2606delinsTT	ENSP00000486629.1:p.Ala869Phe
ENST00000628118.1:n.384_385delinsTT
NM_001271.3:c.2605_2606delinsTT	NP_001262.3:p.Ala869Phe
NM_001271.4:c.2605_2606delinsTT MANE Select	NP_001262.3:p.Ala869Phe