Canonical Allele Identifier: CA5120580

Gene: ROR2

Linked Data

• ClinVar Variation Id: 284609
• ClinVar RCV Id: RCV000314104 ; RCV000324852 ; RCV000395654 ; RCV004543050
• dbSNP Id: rs142386294
• ExAC: 9:94487020 C / T
• gnomAD v2: 9-94487020-C-T
• gnomAD v3: 9-91724738-C-T
• gnomAD v4: 9-91724738-C-T
• MyVariant Identifiers: chr9:g.94487020C>T (hg19) ; chr9:g.91724738C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.91724738C>T , CM000671.2:g.91724738C>T	GRCh38
NC_000009.11:g.94487020C>T , CM000671.1:g.94487020C>T	GRCh37
NC_000009.10:g.93526841C>T	NCBI36
NG_008089.1:g.230425G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375708.4:c.1756G>A MANE Select	ENSP00000364860.3:p.Ala586Thr
ENST00000375708.3:c.1756G>A	ENSP00000364860.3:p.Ala586Thr
ENST00000375715.5:c.1336G>A	ENSP00000364867.1:p.Ala446Thr
ENST00000550066.5:n.2224G>A
NM_004560.3:c.1756G>A	NP_004551.2:p.Ala586Thr
XM_005252008.3:c.1336G>A	XP_005252065.1:p.Ala446Thr
XM_005252009.3:c.553G>A	XP_005252066.1:p.Ala185Thr
XM_006717121.2:c.1336G>A	XP_006717184.1:p.Ala446Thr
XM_011518721.1:c.1336G>A	XP_011517023.1:p.Ala446Thr
XM_005252008.4:c.1336G>A	XP_005252065.1:p.Ala446Thr
XM_006717121.3:c.1336G>A	XP_006717184.1:p.Ala446Thr
XM_017014762.1:c.1747G>A	XP_016870251.1:p.Ala583Thr
XM_017014763.1:c.1336G>A	XP_016870252.1:p.Ala446Thr
NM_004560.4:c.1756G>A MANE Select	NP_004551.2:p.Ala586Thr