Canonical Allele Identifier: CA5120589
Gene: ROR2 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.91724758T>A
GRCh37 chr9:g.94487040T>A
Revel Score:
ENST00000375715 0.527
ENST00000375708 (MANE Select) 0.527
gnomAD v2:
9:94487040 T / A
gnomAD v3:
9:91724758 T / A
gnomAD v4:
chr9-91724758-T-A
Joint Max Group AF 0.00256387 (AFR)
Genomes Max Group AF 0.00275646 (AFR)
Exomes Max Group AF 0.00204919 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.91724758T>A , CM000671.2:g.91724758T>A GRCh38
NC_000009.11:g.94487040T>A , CM000671.1:g.94487040T>A GRCh37
NC_000009.10:g.93526861T>A NCBI36
NG_008089.1:g.230405A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375708.4:c.1736A>T MANE Select ENSP00000364860.3:p.Asp579Val
ENST00000375708.3:c.1736A>T ENSP00000364860.3:p.Asp579Val
ENST00000375715.5:c.1316A>T ENSP00000364867.1:p.Asp439Val
ENST00000550066.5:n.2204A>T
NM_004560.3:c.1736A>T NP_004551.2:p.Asp579Val
XM_005252008.3:c.1316A>T XP_005252065.1:p.Asp439Val
XM_005252009.3:c.533A>T XP_005252066.1:p.Asp178Val
XM_006717121.2:c.1316A>T XP_006717184.1:p.Asp439Val
XM_011518721.1:c.1316A>T XP_011517023.1:p.Asp439Val
XM_005252008.4:c.1316A>T XP_005252065.1:p.Asp439Val
XM_006717121.3:c.1316A>T XP_006717184.1:p.Asp439Val
XM_017014762.1:c.1727A>T XP_016870251.1:p.Asp576Val
XM_017014763.1:c.1316A>T XP_016870252.1:p.Asp439Val
NM_004560.4:c.1736A>T MANE Select NP_004551.2:p.Asp579Val
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