Canonical Allele Identifier: CA393902027
Gene: CHD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 426731
ClinVar RCV Id: RCV000488989
dbSNP Id: rs1085307766
MyVariant Identifiers: chr15:g.93486228C>T (hg19) chr15:g.92942998C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.92942998C>T , CM000677.2:g.92942998C>T GRCh38
NC_000015.9:g.93486228C>T , CM000677.1:g.93486228C>T GRCh37
NC_000015.8:g.91287232C>T NCBI36
NG_012826.1:g.47678C>T
NG_012826.2:g.47678C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000625662.3:c.489C>T
ENST00000700549.1:c.*506C>T ENSP00000515055.1:n.*506C>T
ENST00000700550.1:c.982C>T ENSP00000515056.1:p.Gln328Ter
ENST00000700551.1:c.982C>T ENSP00000515057.1:p.Gln328Ter
ENST00000394196.9:c.982C>T MANE Select ENSP00000377747.4:p.Gln328Ter
ENST00000420239.7:c.982C>T ENSP00000406581.2:p.Gln328Ter
ENST00000625990.3:c.688C>T ENSP00000485890.2:p.Gln230Ter
ENST00000635856.1:n.1554C>T
ENST00000636881.1:c.353C>T
ENST00000637572.1:n.963C>T
ENST00000637613.1:c.355C>T ENSP00000489976.1:p.Gln119Ter
ENST00000394196.8:c.982C>T ENSP00000377747.4:p.Gln328Ter
ENST00000420239.6:c.982C>T ENSP00000406581.2:p.Gln328Ter
ENST00000625243.1:c.59C>T
ENST00000626782.2:c.1021C>T ENSP00000486487.1:p.Gln341Ter
ENST00000626874.2:c.982C>T ENSP00000486629.1:p.Gln328Ter
ENST00000628375.2:c.874C>T ENSP00000487577.1:p.Gln292Ter
ENST00000630790.1:n.1174C>T
NM_001042572.2:c.982C>T NP_001036037.1:p.Gln328Ter
NM_001271.3:c.982C>T NP_001262.3:p.Gln328Ter
NM_001271.4:c.982C>T MANE Select NP_001262.3:p.Gln328Ter
NM_001042572.3:c.982C>T NP_001036037.1:p.Gln328Ter
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