Canonical Allele Identifier: CA972874297

Gene: CHD2

Linked Data

• dbSNP Id: rs2053934346
• gnomAD v3: 15-92978184-CTG-C
• gnomAD v4: 15-92978184-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.92978186_92978187del , CM000677.2:g.92978186_92978187del	GRCh38
NC_000015.9:g.93521416_93521417del , CM000677.1:g.93521416_93521417del	GRCh37
NC_000015.8:g.91322420_91322421del	NCBI36
NG_012826.1:g.82866_82867del
NG_012826.2:g.82866_82867del

Transcript Alleles

HGVS	Amino-acid change
ENST00000625662.3:c.2085-48_2085-47del
ENST00000628118.2:c.1564_1565del
ENST00000700551.1:c.*1409-48_*1409-47del	ENSP00000515057.1:n.*1409-48_*1409-47del
ENST00000394196.9:c.2578-48_2578-47del MANE Select	ENSP00000377747.4:n.2578-48_2578-47del
ENST00000635856.1:n.3150-48_3150-47del
ENST00000636306.1:n.138-48_138-47del
ENST00000636881.1:c.1949-48_1949-47del
ENST00000637572.1:n.3322-48_3322-47del
ENST00000394196.8:c.2578-48_2578-47del	ENSP00000377747.4:n.2578-48_2578-47del
ENST00000625463.1:c.118-48_118-47del	ENSP00000486391.1:n.118-48_118-47del
ENST00000626874.2:c.2578-48_2578-47del	ENSP00000486629.1:n.2578-48_2578-47del
ENST00000628118.1:n.309_310del
NM_001271.3:c.2578-48_2578-47del	NP_001262.3:n.2578-48_2578-47del
NM_001271.4:c.2578-48_2578-47del MANE Select	NP_001262.3:n.2578-48_2578-47del