Canonical Allele Identifier: CA347843
Gene: CHD2 HGNC NCBI

Linked Data

dbSNP Id: rs864309537
MyVariant Identifiers: chr15:g.93496726T>C (hg19) chr15:g.92953496T>C (hg38)
PubMed: PMID:26677509
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.92953496T>C , CM000677.2:g.92953496T>C GRCh38
NC_000015.9:g.93496726T>C , CM000677.1:g.93496726T>C GRCh37
NC_000015.8:g.91297730T>C NCBI36
NG_012826.1:g.58176T>C
NG_012826.2:g.58176T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000625662.3:c.1149T>C
ENST00000628118.2:c.590T>C
ENST00000700550.1:c.1642T>C ENSP00000515056.1:p.Trp548Arg
ENST00000700551.1:c.*473T>C ENSP00000515057.1:n.*473T>C
ENST00000394196.9:c.1642T>C MANE Select ENSP00000377747.4:p.Trp548Arg
ENST00000625990.3:c.1348T>C ENSP00000485890.2:p.Trp450Arg
ENST00000635856.1:n.2214T>C
ENST00000636881.1:c.1013T>C
ENST00000637572.1:n.1623T>C
ENST00000394196.8:c.1642T>C ENSP00000377747.4:p.Trp548Arg
ENST00000626874.2:c.1642T>C ENSP00000486629.1:p.Trp548Arg
ENST00000628181.1:n.170T>C
NM_001271.3:c.1642T>C NP_001262.3:p.Trp548Arg
NM_001271.4:c.1642T>C MANE Select NP_001262.3:p.Trp548Arg
Search 100 bp 5'
Search 100 bp 3'