Canonical Allele Identifier: CA354195

Gene: CHD2

Linked Data

• ClinVar Variation Id: 224140
• ClinVar RCV Id: RCV000209909 ; RCV002347818
• dbSNP Id: rs869312877
• MyVariant Identifiers: chr15:g.93540535dupG (hg19) ; chr15:g.92997305dupG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.92997305dup , CM000677.2:g.92997305dup	GRCh38
NC_000015.9:g.93540535dup , CM000677.1:g.93540535dup	GRCh37
NC_000015.8:g.91341539dup	NCBI36
NG_012826.1:g.101985dup
NG_012826.2:g.101985dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000625662.3:c.3294dup
ENST00000628118.2:c.2821dup
ENST00000394196.9:c.3787dup MANE Select	ENSP00000377747.4:p.Val1263GlyfsTer4
ENST00000636306.1:n.1347dup
ENST00000636881.1:c.3200dup
ENST00000637789.1:c.659dup	ENSP00000489767.1:n.659dup
ENST00000394196.8:c.3787dup	ENSP00000377747.4:p.Val1263GlyfsTer4
ENST00000625662.2:c.77dup
ENST00000626874.2:c.3787dup	ENSP00000486629.1:p.Val1263GlyfsTer4
ENST00000627185.1:n.195dup
NM_001271.3:c.3787dup	NP_001262.3:p.Val1263GlyfsTer4
NM_001271.4:c.3787dup MANE Select	NP_001262.3:p.Val1263GlyfsTer4