Canonical Allele Identifier: CA272469

Gene: ROR2

Linked Data

• ClinVar Variation Id: 159824
• ClinVar RCV Id: RCV000147395 ; RCV000276095 ; RCV000894196 ; RCV004544344
• dbSNP Id: rs371221714
• ExAC: 9:94493389 C / T
• gnomAD v2: 9-94493389-C-T
• gnomAD v3: 9-91731107-C-T
• gnomAD v4: 9-91731107-C-T
• MyVariant Identifiers: chr9:g.94493389C>T (hg19) ; chr9:g.91731107C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.91731107C>T , CM000671.2:g.91731107C>T	GRCh38
NC_000009.11:g.94493389C>T , CM000671.1:g.94493389C>T	GRCh37
NC_000009.10:g.93533210C>T	NCBI36
NG_008089.1:g.224056G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375708.4:c.986G>A MANE Select	ENSP00000364860.3:p.Ser329Asn
ENST00000375708.3:c.986G>A	ENSP00000364860.3:p.Ser329Asn
ENST00000375715.5:c.566G>A	ENSP00000364867.1:p.Ser189Asn
ENST00000550066.5:n.1454G>A
NM_004560.3:c.986G>A	NP_004551.2:p.Ser329Asn
XM_005252008.3:c.566G>A	XP_005252065.1:p.Ser189Asn
XM_006717121.2:c.566G>A	XP_006717184.1:p.Ser189Asn
XM_011518721.1:c.566G>A	XP_011517023.1:p.Ser189Asn
NM_001318204.1:c.986G>A	NP_001305133.1:p.Ser329Asn
XM_005252008.4:c.566G>A	XP_005252065.1:p.Ser189Asn
XM_006717121.3:c.566G>A	XP_006717184.1:p.Ser189Asn
XM_017014762.1:c.977G>A	XP_016870251.1:p.Ser326Asn
XM_017014763.1:c.566G>A	XP_016870252.1:p.Ser189Asn
XR_001746315.1:n.1229G>A
NM_004560.4:c.986G>A MANE Select	NP_004551.2:p.Ser329Asn
NM_001318204.2:c.986G>A	NP_001305133.1:p.Ser329Asn