Canonical Allele Identifier: CA5121038
Gene: ROR2 HGNC NCBI

Linked Data

dbSNP Id: rs749699077
gnomAD v2: 9-94519572-C-T
gnomAD v3: 9-91757290-C-T
gnomAD v4: 9-91757290-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.91757290C>T , CM000671.2:g.91757290C>T GRCh38
NC_000009.11:g.94519572C>T , CM000671.1:g.94519572C>T GRCh37
NC_000009.10:g.93559393C>T NCBI36
NG_008089.1:g.197873G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375708.4:c.445G>A MANE Select ENSP00000364860.3:p.Val149Ile
ENST00000375708.3:c.445G>A ENSP00000364860.3:p.Val149Ile
ENST00000375715.5:c.25G>A ENSP00000364867.1:p.Val9Ile
ENST00000548585.2:n.172+139G>A
ENST00000550066.5:n.913G>A
NM_004560.3:c.445G>A NP_004551.2:p.Val149Ile
XM_005252008.3:c.25G>A XP_005252065.1:p.Val9Ile
XM_006717121.2:c.25G>A XP_006717184.1:p.Val9Ile
XM_011518721.1:c.25G>A XP_011517023.1:p.Val9Ile
NM_001318204.1:c.445G>A NP_001305133.1:p.Val149Ile
XM_005252008.4:c.25G>A XP_005252065.1:p.Val9Ile
XM_006717121.3:c.25G>A XP_006717184.1:p.Val9Ile
XM_017014762.1:c.436G>A XP_016870251.1:p.Val146Ile
XM_017014763.1:c.25G>A XP_016870252.1:p.Val9Ile
XR_001746315.1:n.688G>A
NM_004560.4:c.445G>A MANE Select NP_004551.2:p.Val149Ile
NM_001318204.2:c.445G>A NP_001305133.1:p.Val149Ile