Canonical Allele Identifier: CA5120341
Gene: ROR2 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.91723845C>T
GRCh37 chr9:g.94486127C>T
Revel Score:
ENST00000375708 (MANE Select) 0.124
gnomAD v2:
9:94486127 C / T
gnomAD v3:
9:91723845 C / T
gnomAD v4:
chr9-91723845-C-T
Joint Max Group AF 0.00003774 (NFE)
Genomes Max Group AF 0.00003763 (NFE)
Exomes Max Group AF 0.00003545 (NFE)
ClinVar Allele:
319319
ClinVar RCV:
RCV000293100
RCV000331525
RCV001861351
ClinVar Variation:
367495
dbSNP:
373037095
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.91723845C>T , CM000671.2:g.91723845C>T GRCh38
NC_000009.11:g.94486127C>T , CM000671.1:g.94486127C>T GRCh37
NC_000009.10:g.93525948C>T NCBI36
NG_008089.1:g.231318G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375708.4:c.2649G>A MANE Select ENSP00000364860.3:p.Met883Ile
ENST00000375708.3:c.2649G>A ENSP00000364860.3:p.Met883Ile
ENST00000375715.5:c.1920+309G>A ENSP00000364867.1:n.1920+309G>A
ENST00000550066.5:n.3117G>A
NM_004560.3:c.2649G>A NP_004551.2:p.Met883Ile
XM_005252008.3:c.2229G>A XP_005252065.1:p.Met743Ile
XM_005252009.3:c.1446G>A XP_005252066.1:p.Met482Ile
XM_006717121.2:c.2229G>A XP_006717184.1:p.Met743Ile
XM_011518721.1:c.2229G>A XP_011517023.1:p.Met743Ile
XM_005252008.4:c.2229G>A XP_005252065.1:p.Met743Ile
XM_006717121.3:c.2229G>A XP_006717184.1:p.Met743Ile
XM_017014762.1:c.2640G>A XP_016870251.1:p.Met880Ile
XM_017014763.1:c.2229G>A XP_016870252.1:p.Met743Ile
NM_004560.4:c.2649G>A MANE Select NP_004551.2:p.Met883Ile
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