Canonical Allele Identifier: CA5120394
Gene: ROR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 717226
dbSNP Id: rs770921333
gnomAD v2: 9-94486332-G-A
gnomAD v3: 9-91724050-G-A
gnomAD v4: 9-91724050-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.91724050G>A , CM000671.2:g.91724050G>A GRCh38
NC_000009.11:g.94486332G>A , CM000671.1:g.94486332G>A GRCh37
NC_000009.10:g.93526153G>A NCBI36
NG_008089.1:g.231113C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000375708.4:c.2444C>T MANE Select ENSP00000364860.3:p.Pro815Leu
ENST00000375708.3:c.2444C>T ENSP00000364860.3:p.Pro815Leu
ENST00000375715.5:c.1920+104C>T ENSP00000364867.1:n.1920+104C>T
ENST00000550066.5:n.2912C>T
NM_004560.3:c.2444C>T NP_004551.2:p.Pro815Leu
XM_005252008.3:c.2024C>T XP_005252065.1:p.Pro675Leu
XM_005252009.3:c.1241C>T XP_005252066.1:p.Pro414Leu
XM_006717121.2:c.2024C>T XP_006717184.1:p.Pro675Leu
XM_011518721.1:c.2024C>T XP_011517023.1:p.Pro675Leu
XM_005252008.4:c.2024C>T XP_005252065.1:p.Pro675Leu
XM_006717121.3:c.2024C>T XP_006717184.1:p.Pro675Leu
XM_017014762.1:c.2435C>T XP_016870251.1:p.Pro812Leu
XM_017014763.1:c.2024C>T XP_016870252.1:p.Pro675Leu
NM_004560.4:c.2444C>T MANE Select NP_004551.2:p.Pro815Leu