Canonical Allele Identifier: CA195321268
Gene: ROR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1014903
ClinVar RCV Id: RCV001313703
dbSNP Id: rs113793278
gnomAD v4: 9-91723674-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.91723674C>G , CM000671.2:g.91723674C>G GRCh38
NC_000009.11:g.94485956C>G , CM000671.1:g.94485956C>G GRCh37
NC_000009.10:g.93525777C>G NCBI36
NG_008089.1:g.231489G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375708.4:c.2820G>C MANE Select ENSP00000364860.3:p.Gln940His
ENST00000375708.3:c.2820G>C ENSP00000364860.3:p.Gln940His
ENST00000375715.5:c.1920+480G>C ENSP00000364867.1:n.1920+480G>C
ENST00000550066.5:n.3288G>C
NM_004560.3:c.2820G>C NP_004551.2:p.Gln940His
XM_005252008.3:c.2400G>C XP_005252065.1:p.Gln800His
XM_005252009.3:c.1617G>C XP_005252066.1:p.Gln539His
XM_006717121.2:c.2400G>C XP_006717184.1:p.Gln800His
XM_011518721.1:c.2400G>C XP_011517023.1:p.Gln800His
XM_005252008.4:c.2400G>C XP_005252065.1:p.Gln800His
XM_006717121.3:c.2400G>C XP_006717184.1:p.Gln800His
XM_017014762.1:c.2811G>C XP_016870251.1:p.Gln937His
XM_017014763.1:c.2400G>C XP_016870252.1:p.Gln800His
NM_004560.4:c.2820G>C MANE Select NP_004551.2:p.Gln940His