Canonical Allele Identifier: CA5120315
Gene: ROR2 HGNC NCBI

Linked Data

dbSNP Id: rs751576095
gnomAD v2: 9-94486008-G-A
gnomAD v3: 9-91723726-G-A
gnomAD v4: 9-91723726-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.91723726G>A , CM000671.2:g.91723726G>A GRCh38
NC_000009.11:g.94486008G>A , CM000671.1:g.94486008G>A GRCh37
NC_000009.10:g.93525829G>A NCBI36
NG_008089.1:g.231437C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375708.4:c.2768C>T MANE Select ENSP00000364860.3:p.Thr923Ile
ENST00000375708.3:c.2768C>T ENSP00000364860.3:p.Thr923Ile
ENST00000375715.5:c.1920+428C>T ENSP00000364867.1:n.1920+428C>T
ENST00000550066.5:n.3236C>T
NM_004560.3:c.2768C>T NP_004551.2:p.Thr923Ile
XM_005252008.3:c.2348C>T XP_005252065.1:p.Thr783Ile
XM_005252009.3:c.1565C>T XP_005252066.1:p.Thr522Ile
XM_006717121.2:c.2348C>T XP_006717184.1:p.Thr783Ile
XM_011518721.1:c.2348C>T XP_011517023.1:p.Thr783Ile
XM_005252008.4:c.2348C>T XP_005252065.1:p.Thr783Ile
XM_006717121.3:c.2348C>T XP_006717184.1:p.Thr783Ile
XM_017014762.1:c.2759C>T XP_016870251.1:p.Thr920Ile
XM_017014763.1:c.2348C>T XP_016870252.1:p.Thr783Ile
NM_004560.4:c.2768C>T MANE Select NP_004551.2:p.Thr923Ile