Canonical Allele Identifier: CA5120683

Gene: ROR2

Linked Data

• ClinVar Variation Id: 367505
• ClinVar RCV Id: RCV000290524 ; RCV000397545 ; RCV000731519
• dbSNP Id: rs767474960
• ExAC: 9:94487328 C / T
• gnomAD v2: 9-94487328-C-T
• gnomAD v3: 9-91725046-C-T
• gnomAD v4: 9-91725046-C-T
• COSMIC: COSM456220
• MyVariant Identifiers: chr9:g.94487328C>T (hg19) ; chr9:g.91725046C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.91725046C>T , CM000671.2:g.91725046C>T	GRCh38
NC_000009.11:g.94487328C>T , CM000671.1:g.94487328C>T	GRCh37
NC_000009.10:g.93527149C>T	NCBI36
NG_008089.1:g.230117G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375708.4:c.1448G>A MANE Select	ENSP00000364860.3:p.Arg483Gln
ENST00000375708.3:c.1448G>A	ENSP00000364860.3:p.Arg483Gln
ENST00000375715.5:c.1028G>A	ENSP00000364867.1:p.Arg343Gln
ENST00000550066.5:n.1916G>A
NM_004560.3:c.1448G>A	NP_004551.2:p.Arg483Gln
XM_005252008.3:c.1028G>A	XP_005252065.1:p.Arg343Gln
XM_005252009.3:c.245G>A	XP_005252066.1:p.Arg82Gln
XM_006717121.2:c.1028G>A	XP_006717184.1:p.Arg343Gln
XM_011518721.1:c.1028G>A	XP_011517023.1:p.Arg343Gln
XM_005252008.4:c.1028G>A	XP_005252065.1:p.Arg343Gln
XM_006717121.3:c.1028G>A	XP_006717184.1:p.Arg343Gln
XM_017014762.1:c.1439G>A	XP_016870251.1:p.Arg480Gln
XM_017014763.1:c.1028G>A	XP_016870252.1:p.Arg343Gln
XR_001746315.1:n.1657G>A
NM_004560.4:c.1448G>A MANE Select	NP_004551.2:p.Arg483Gln