Canonical Allele Identifier: CA347823
Gene: CHD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2736262
ClinVar RCV Id: RCV003581457
dbSNP Id: rs864309541
MyVariant Identifiers: chr15:g.93518170A>G (hg19) chr15:g.92974940A>G (hg38)
PubMed: PMID:25363760 PMID:26677509
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.92974940A>G , CM000677.2:g.92974940A>G GRCh38
NC_000015.9:g.93518170A>G , CM000677.1:g.93518170A>G GRCh37
NC_000015.8:g.91319174A>G NCBI36
NG_012826.1:g.79620A>G
NG_012826.2:g.79620A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000625662.3:c.2074A>G
ENST00000628118.2:c.1515A>G
ENST00000700550.1:c.*561A>G ENSP00000515056.1:n.*561A>G
ENST00000700551.1:c.*1398A>G ENSP00000515057.1:n.*1398A>G
ENST00000394196.9:c.2567A>G MANE Select ENSP00000377747.4:p.Asp856Gly
ENST00000635856.1:n.3139A>G
ENST00000636306.1:n.127A>G
ENST00000636881.1:c.1938A>G
ENST00000637572.1:n.3311A>G
ENST00000394196.8:c.2567A>G ENSP00000377747.4:p.Asp856Gly
ENST00000625463.1:c.107A>G ENSP00000486391.1:p.Asp36Gly
ENST00000626874.2:c.2567A>G ENSP00000486629.1:p.Asp856Gly
ENST00000628118.1:n.260A>G
NM_001271.3:c.2567A>G NP_001262.3:p.Asp856Gly
NM_001271.4:c.2567A>G MANE Select NP_001262.3:p.Asp856Gly
Search 100 bp 5'
Search 100 bp 3'