Canonical Allele Identifier: CA16614986
Gene: CHD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 411852
ClinVar RCV Id: RCV000465957
dbSNP Id: rs1060503517
MyVariant Identifiers: chr15:g.93486125_93486129del (hg19) chr15:g.92942895_92942899del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.92942895_92942899del , CM000677.2:g.92942895_92942899del GRCh38
NC_000015.9:g.93486125_93486129del , CM000677.1:g.93486125_93486129del GRCh37
NC_000015.8:g.91287129_91287133del NCBI36
NG_012826.1:g.47575_47579del
NG_012826.2:g.47575_47579del

Transcript Alleles

HGVS Amino-acid change
ENST00000625662.3:c.386_390del
ENST00000700549.1:c.*403_*407del ENSP00000515055.1:n.*403_*407del
ENST00000700550.1:c.879_883del ENSP00000515056.1:p.Ser293ArgfsTer3
ENST00000700551.1:c.879_883del ENSP00000515057.1:p.Ser293ArgfsTer3
ENST00000394196.9:c.879_883del MANE Select ENSP00000377747.4:p.Ser293ArgfsTer3
ENST00000420239.7:c.879_883del ENSP00000406581.2:p.Ser293ArgfsTer3
ENST00000625990.3:c.585_589del ENSP00000485890.2:p.Ser195ArgfsTer3
ENST00000635856.1:n.1451_1455del
ENST00000636881.1:c.250_254del
ENST00000637572.1:n.860_864del
ENST00000637613.1:c.252_256del ENSP00000489976.1:p.Ser84ArgfsTer3
ENST00000394196.8:c.879_883del ENSP00000377747.4:p.Ser293ArgfsTer3
ENST00000420239.6:c.879_883del ENSP00000406581.2:p.Ser293ArgfsTer3
ENST00000626782.2:c.918_922del ENSP00000486487.1:p.Ser306ArgfsTer3
ENST00000626874.2:c.879_883del ENSP00000486629.1:p.Ser293ArgfsTer3
ENST00000628375.2:c.771_775del ENSP00000487577.1:p.Ser257ArgfsTer3
ENST00000630790.1:n.1071_1075del
NM_001042572.2:c.879_883del NP_001036037.1:p.Ser293ArgfsTer3
NM_001271.3:c.879_883del NP_001262.3:p.Ser293ArgfsTer3
NM_001271.4:c.879_883del MANE Select NP_001262.3:p.Ser293ArgfsTer3
NM_001042572.3:c.879_883del NP_001036037.1:p.Ser293ArgfsTer3
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