Canonical Allele Identifier: CA5120640

Gene: ROR2

Linked Data

• ClinVar Variation Id: 284633
• ClinVar RCV Id: RCV000279061 ; RCV000288113 ; RCV000509126 ; RCV000891712
• dbSNP Id: rs35852786
• ExAC: 9:94487187 C / T
• gnomAD v2: 9-94487187-C-T
• gnomAD v3: 9-91724905-C-T
• gnomAD v4: 9-91724905-C-T
• MyVariant Identifiers: chr9:g.94487187C>T (hg19) ; chr9:g.91724905C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.91724905C>T , CM000671.2:g.91724905C>T	GRCh38
NC_000009.11:g.94487187C>T , CM000671.1:g.94487187C>T	GRCh37
NC_000009.10:g.93527008C>T	NCBI36
NG_008089.1:g.230258G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000375708.4:c.1589G>A MANE Select	ENSP00000364860.3:p.Arg530Gln
ENST00000375708.3:c.1589G>A	ENSP00000364860.3:p.Arg530Gln
ENST00000375715.5:c.1169G>A	ENSP00000364867.1:p.Arg390Gln
ENST00000550066.5:n.2057G>A
NM_004560.3:c.1589G>A	NP_004551.2:p.Arg530Gln
XM_005252008.3:c.1169G>A	XP_005252065.1:p.Arg390Gln
XM_005252009.3:c.386G>A	XP_005252066.1:p.Arg129Gln
XM_006717121.2:c.1169G>A	XP_006717184.1:p.Arg390Gln
XM_011518721.1:c.1169G>A	XP_011517023.1:p.Arg390Gln
XM_005252008.4:c.1169G>A	XP_005252065.1:p.Arg390Gln
XM_006717121.3:c.1169G>A	XP_006717184.1:p.Arg390Gln
XM_017014762.1:c.1580G>A	XP_016870251.1:p.Arg527Gln
XM_017014763.1:c.1169G>A	XP_016870252.1:p.Arg390Gln
NM_004560.4:c.1589G>A MANE Select	NP_004551.2:p.Arg530Gln