Canonical Allele Identifier: CA115553
Gene: IGF2BP2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 2435
ClinVar RCV Id: RCV000002537
dbSNP Id: rs4402960

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.185793899G>T , CM000665.2:g.185793899G>T GRCh38
NC_000003.11:g.185511687G>T , CM000665.1:g.185511687G>T GRCh37
NC_000003.10:g.186994381G>T NCBI36
NG_011602.1:g.36141C>A

Transcript Alleles

HGVS Amino-acid change
NM_001007225.1:c.239+29254C>A VV NP_001007226.1:p.=
NM_001291869.1:c.239+29254C>A VV NP_001278798.1:p.=
NM_001291872.1:c.50+27113C>A VV NP_001278801.1:p.=
NM_001291873.1:c.50+27113C>A VV NP_001278802.1:p.=
NM_001291874.1:c.50+27113C>A VV NP_001278803.1:p.=
NM_001291875.1:c.-106+27113C>A VV NP_001278804.1:p.=
NM_006548.4:c.239+29254C>A VV NP_006539.3:p.=
XM_011512338.1:c.239+29254C>A XP_011510640.1:p.=
XM_011512339.1:c.239+29254C>A XP_011510641.1:p.=
XM_011512341.1:c.239+29254C>A XP_011510643.1:p.=
XR_427358.2:n.318+29254C>A
NM_001007225.2:c.239+29254C>A VV NP_001007226.1:p.=
NM_001291869.2:c.239+29254C>A VV NP_001278798.1:p.=
NM_001291872.2:c.50+27113C>A VV NP_001278801.1:p.=
NM_001291873.2:c.50+27113C>A VV NP_001278802.1:p.=
NM_001291874.2:c.50+27113C>A VV NP_001278803.1:p.=
NM_001291875.2:c.-106+27113C>A VV NP_001278804.1:p.=
NM_006548.5:c.239+29254C>A VV NP_006539.3:p.=
NR_138486.1:n.335+29254C>A
XM_017005557.2:c.178+30884C>A XP_016861046.1:p.=
XM_017005558.2:c.239+29254C>A XP_016861047.1:p.=
XM_017005559.2:c.239+29254C>A XP_016861048.1:p.=
XM_017005560.2:c.35+29254C>A XP_016861049.1:p.=
XM_017005561.1:c.239+29254C>A XP_016861050.1:p.=
XM_017005562.1:c.239+29254C>A XP_016861051.1:p.=
XM_017005563.1:c.239+29254C>A XP_016861052.1:p.=
XM_017005564.1:c.239+29254C>A XP_016861053.1:p.=
XM_024453316.1:c.-170+30884C>A XP_024309084.1:p.=
XR_001739984.2:n.324+29254C>A
ENST00000346192.7:c.239+29254C>A ENSP00000320204.5:p.=
ENST00000382199.6:c.239+29254C>A ENSP00000371634.2:p.=
ENST00000421047.3:c.50+27113C>A ENSP00000413787.3:p.=
ENST00000457616.6:c.239+29254C>A ENSP00000410242.2:p.=
ENST00000461957.5:n.119+29254C>A
ENST00000466476.1:n.171+29254C>A
ENST00000493302.5:n.120+27113C>A