Canonical Allele Identifier: CA200468

Gene: ROR2

Linked Data

• ClinVar Variation Id: 159822
• ClinVar RCV Id: RCV000147393 ; RCV000173351 ; RCV000308365 ; RCV000974248
• dbSNP Id: rs148237260
• ExAC: 9:94712171 C / T
• gnomAD v2: 9-94712171-C-T
• gnomAD v3: 9-91949889-C-T
• gnomAD v4: 9-91949889-C-T
• MyVariant Identifiers: chr9:g.94712171C>T (hg19) ; chr9:g.91949889C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.91949889C>T , CM000671.2:g.91949889C>T	GRCh38
NC_000009.11:g.94712171C>T , CM000671.1:g.94712171C>T	GRCh37
NC_000009.10:g.93751992C>T	NCBI36
NG_008089.1:g.5274G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375708.4:c.75G>A MANE Select	ENSP00000364860.3:p.Leu25=
ENST00000375708.3:c.75G>A	ENSP00000364860.3:p.Leu25=
ENST00000476440.1:n.18G>A
NM_004560.3:c.75G>A	NP_004551.2:p.Leu25=
NM_001318204.1:c.75G>A	NP_001305133.1:p.Leu25=
XR_001746315.1:n.318G>A
NM_004560.4:c.75G>A MANE Select	NP_004551.2:p.Leu25=
NM_001318204.2:c.75G>A	NP_001305133.1:p.Leu25=