Canonical Allele Identifier: CA5120333

Gene: ROR2

Linked Data

• ClinVar Variation Id: 1610228
• ClinVar RCV Id: RCV002153028 ; RCV003250461 ; RCV004531426
• dbSNP Id: rs141070315
• ExAC: 9:94486082 C / G
• gnomAD v2: 9-94486082-C-G
• gnomAD v3: 9-91723800-C-G
• gnomAD v4: 9-91723800-C-G
• MyVariant Identifiers: chr9:g.94486082C>G (hg19) ; chr9:g.91723800C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.91723800C>G , CM000671.2:g.91723800C>G	GRCh38
NC_000009.11:g.94486082C>G , CM000671.1:g.94486082C>G	GRCh37
NC_000009.10:g.93525903C>G	NCBI36
NG_008089.1:g.231363G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375708.4:c.2694G>C MANE Select	ENSP00000364860.3:p.Gln898His
ENST00000375708.3:c.2694G>C	ENSP00000364860.3:p.Gln898His
ENST00000375715.5:c.1920+354G>C	ENSP00000364867.1:n.1920+354G>C
ENST00000550066.5:n.3162G>C
NM_004560.3:c.2694G>C	NP_004551.2:p.Gln898His
XM_005252008.3:c.2274G>C	XP_005252065.1:p.Gln758His
XM_005252009.3:c.1491G>C	XP_005252066.1:p.Gln497His
XM_006717121.2:c.2274G>C	XP_006717184.1:p.Gln758His
XM_011518721.1:c.2274G>C	XP_011517023.1:p.Gln758His
XM_005252008.4:c.2274G>C	XP_005252065.1:p.Gln758His
XM_006717121.3:c.2274G>C	XP_006717184.1:p.Gln758His
XM_017014762.1:c.2685G>C	XP_016870251.1:p.Gln895His
XM_017014763.1:c.2274G>C	XP_016870252.1:p.Gln758His
NM_004560.4:c.2694G>C MANE Select	NP_004551.2:p.Gln898His