Canonical Allele Identifier: CA16042919
Gene: CHD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 372997
ClinVar RCV Id: RCV000413171 RCV000762955
dbSNP Id: rs1057518128
MyVariant Identifiers: chr15:g.93470519C>T (hg19) chr15:g.92927289C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.92927289C>T , CM000677.2:g.92927289C>T GRCh38
NC_000015.9:g.93470519C>T , CM000677.1:g.93470519C>T GRCh37
NC_000015.8:g.91271523C>T NCBI36
NG_012826.1:g.31969C>T
NG_012826.2:g.31969C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000700549.1:c.340C>T ENSP00000515055.1:p.Arg114Ter
ENST00000700550.1:c.340C>T ENSP00000515056.1:p.Arg114Ter
ENST00000700551.1:c.340C>T ENSP00000515057.1:p.Arg114Ter
ENST00000700552.1:c.46C>T ENSP00000515058.1:p.Arg16Ter
ENST00000394196.9:c.340C>T MANE Select ENSP00000377747.4:p.Arg114Ter
ENST00000420239.7:c.340C>T ENSP00000406581.2:p.Arg114Ter
ENST00000625990.3:c.46C>T ENSP00000485890.2:p.Arg16Ter
ENST00000635856.1:n.912C>T
ENST00000637572.1:n.321C>T
ENST00000394196.8:c.340C>T ENSP00000377747.4:p.Arg114Ter
ENST00000420239.6:c.340C>T ENSP00000406581.2:p.Arg114Ter
ENST00000625990.2:c.46C>T ENSP00000485890.1:p.Arg16Ter
ENST00000626782.2:c.379C>T ENSP00000486487.1:p.Arg127Ter
ENST00000626874.2:c.340C>T ENSP00000486629.1:p.Arg114Ter
ENST00000628375.2:c.340C>T ENSP00000487577.1:p.Arg114Ter
ENST00000629136.1:n.306C>T
ENST00000629685.2:c.340C>T ENSP00000486623.1:p.Arg114Ter
ENST00000630790.1:n.532C>T
NM_001042572.2:c.340C>T NP_001036037.1:p.Arg114Ter
NM_001271.3:c.340C>T NP_001262.3:p.Arg114Ter
NM_001271.4:c.340C>T MANE Select NP_001262.3:p.Arg114Ter
NM_001042572.3:c.340C>T NP_001036037.1:p.Arg114Ter
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