Canonical Allele Identifier: CA5120886

Gene: ROR2

Linked Data

• ClinVar Variation Id: 498455
• ClinVar RCV Id: RCV000597894 ; RCV000855499
• dbSNP Id: rs145631389
• ExAC: 9:94495533 T / C
• gnomAD v2: 9-94495533-T-C
• gnomAD v3: 9-91733251-T-C
• gnomAD v4: 9-91733251-T-C
• MyVariant Identifiers: chr9:g.94495533T>C (hg19) ; chr9:g.91733251T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.91733251T>C , CM000671.2:g.91733251T>C	GRCh38
NC_000009.11:g.94495533T>C , CM000671.1:g.94495533T>C	GRCh37
NC_000009.10:g.93535354T>C	NCBI36
NG_008089.1:g.221912A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375708.4:c.808A>G MANE Select	ENSP00000364860.3:p.Ile270Val
ENST00000375708.3:c.808A>G	ENSP00000364860.3:p.Ile270Val
ENST00000375715.5:c.388A>G	ENSP00000364867.1:p.Ile130Val
ENST00000550066.5:n.1276A>G
NM_004560.3:c.808A>G	NP_004551.2:p.Ile270Val
XM_005252008.3:c.388A>G	XP_005252065.1:p.Ile130Val
XM_006717121.2:c.388A>G	XP_006717184.1:p.Ile130Val
XM_011518721.1:c.388A>G	XP_011517023.1:p.Ile130Val
NM_001318204.1:c.808A>G	NP_001305133.1:p.Ile270Val
XM_005252008.4:c.388A>G	XP_005252065.1:p.Ile130Val
XM_006717121.3:c.388A>G	XP_006717184.1:p.Ile130Val
XM_017014762.1:c.799A>G	XP_016870251.1:p.Ile267Val
XM_017014763.1:c.388A>G	XP_016870252.1:p.Ile130Val
XR_001746315.1:n.1051A>G
NM_004560.4:c.808A>G MANE Select	NP_004551.2:p.Ile270Val
NM_001318204.2:c.808A>G	NP_001305133.1:p.Ile270Val