Canonical Allele Identifier: CA5120725
Gene: ROR2 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.91726605C>T
GRCh37 chr9:g.94488887C>T
Revel Score:
ENST00000375715 0.239
ENST00000375708 (MANE Select) 0.239
gnomAD v2:
9:94488887 C / T
gnomAD v3:
9:91726605 C / T
gnomAD v4:
chr9-91726605-C-T
Joint Max Group AF 0.00003666 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00003631 (NFE)
ClinVar Allele:
537533
ClinVar RCV:
RCV000659116
RCV002485502
RCV003243244
ClinVar Variation:
547044
dbSNP:
142993413
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.91726605C>T , CM000671.2:g.91726605C>T GRCh38
NC_000009.11:g.94488887C>T , CM000671.1:g.94488887C>T GRCh37
NC_000009.10:g.93528708C>T NCBI36
NG_008089.1:g.228558G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375708.4:c.1322G>A MANE Select ENSP00000364860.3:p.Arg441Gln
ENST00000375708.3:c.1322G>A ENSP00000364860.3:p.Arg441Gln
ENST00000375715.5:c.902G>A ENSP00000364867.1:p.Arg301Gln
ENST00000550066.5:n.1790G>A
NM_004560.3:c.1322G>A NP_004551.2:p.Arg441Gln
XM_005252008.3:c.902G>A XP_005252065.1:p.Arg301Gln
XM_005252009.3:c.119G>A XP_005252066.1:p.Arg40Gln
XM_006717121.2:c.902G>A XP_006717184.1:p.Arg301Gln
XM_011518721.1:c.902G>A XP_011517023.1:p.Arg301Gln
NM_001318204.1:c.1288G>A NP_001305133.1:p.Gly430Ser
XM_005252008.4:c.902G>A XP_005252065.1:p.Arg301Gln
XM_006717121.3:c.902G>A XP_006717184.1:p.Arg301Gln
XM_017014762.1:c.1313G>A XP_016870251.1:p.Arg438Gln
XM_017014763.1:c.902G>A XP_016870252.1:p.Arg301Gln
XR_001746315.1:n.1531G>A
NM_004560.4:c.1322G>A MANE Select NP_004551.2:p.Arg441Gln
NM_001318204.2:c.1288G>A NP_001305133.1:p.Gly430Ser
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