Canonical Allele Identifier: CA15559853
Gene: RIPK2 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.89766285G>A
GRCh37 chr8:g.90778513G>A
gnomAD v2:
8:90778513 G / A
gnomAD v3:
8:89766285 G / A
gnomAD v4:
chr8-89766285-G-A
Joint Max Group AF 0.6919581 (AFR)
Genomes Max Group AF 0.6919581 (AFR)
ClinVar RCV:
RCV002291824
ClinVar Variation:
1710537
dbSNP:
42490
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89766285G>A , CM000670.2:g.89766285G>A GRCh38
NC_000008.10:g.90778513G>A , CM000670.1:g.90778513G>A GRCh37
NC_000008.9:g.90847650G>A NCBI36
NG_033016.1:g.13539G>A
NG_033016.2:g.13539G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000220751.5:c.483+789G>A MANE Select ENSP00000220751.4:n.483+789G>A
ENST00000220751.4:c.483+789G>A ENSP00000220751.4:n.483+789G>A
ENST00000522965.1:c.*122+789G>A ENSP00000429271.1:n.*122+789G>A
NM_003821.5:c.483+789G>A NP_003812.1:n.483+789G>A
XM_005251092.2:c.72+789G>A XP_005251149.1:n.72+789G>A
XM_005251092.3:c.72+789G>A XP_005251149.1:n.72+789G>A
NM_003821.6:c.483+789G>A MANE Select NP_003812.1:n.483+789G>A
NM_001375360.1:c.72+789G>A NP_001362289.1:n.72+789G>A
Search 100 bp 5'
Search 100 bp 3'