Canonical Allele Identifier: CA347839
Gene: CHD2 HGNC NCBI

Linked Data

dbSNP Id: rs864309544
MyVariant Identifiers: chr15:g.93545525_93545543del (hg19) chr15:g.93002295_93002313del (hg38)
PubMed: PMID:26677509
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.93002295_93002313del , CM000677.2:g.93002295_93002313del GRCh38
NC_000015.9:g.93545525_93545543del , CM000677.1:g.93545525_93545543del GRCh37
NC_000015.8:g.91346529_91346547del NCBI36
NG_012826.1:g.106975_106993del
NG_012826.2:g.106975_106993del

Transcript Alleles

HGVS Amino-acid change
ENST00000625662.3:c.3876_3894del
ENST00000394196.9:c.4256_4274del MANE Select ENSP00000377747.4:p.Lys1419ArgfsTer?
ENST00000394196.8:c.4256_4274del ENSP00000377747.4:p.Lys1419ArgfsTer?
ENST00000625662.2:c.659_677del
ENST00000626874.2:c.4256_4274del ENSP00000486629.1:p.Lys1419ArgfsTer?
ENST00000629104.1:c.597_615del ENSP00000485681.1:n.597_615del
NM_001271.3:c.4256_4274del NP_001262.3:p.Lys1419ArgfsTer?
NM_001271.4:c.4256_4274del MANE Select NP_001262.3:p.Lys1419ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'