Canonical Allele Identifier: CA1057350999

Gene: IGF2BP2

Linked Data

• dbSNP Id: rs1740256136
• gnomAD v3: 3-185813923-TGA-T
• gnomAD v4: 3-185813923-TGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.185813925_185813926del , CM000665.2:g.185813925_185813926del	GRCh38
NC_000003.11:g.185531713_185531714del , CM000665.1:g.185531713_185531714del	GRCh37
NC_000003.10:g.187014407_187014408del	NCBI36
NG_011602.1:g.16115_16116del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382199.7:c.239+9228_239+9229del MANE Select	ENSP00000371634.3:n.239+9228_239+9229del
ENST00000346192.7:c.239+9228_239+9229del	ENSP00000320204.5:n.239+9228_239+9229del
ENST00000382199.6:c.239+9228_239+9229del	ENSP00000371634.2:n.239+9228_239+9229del
ENST00000421047.3:c.50+7087_50+7088del	ENSP00000413787.3:n.50+7087_50+7088del
ENST00000457616.6:c.239+9228_239+9229del	ENSP00000410242.2:n.239+9228_239+9229del
ENST00000461957.5:n.119+9228_119+9229del
ENST00000466476.1:n.171+9228_171+9229del
ENST00000493302.5:n.120+7087_120+7088del
NM_001007225.1:c.239+9228_239+9229del	NP_001007226.1:n.239+9228_239+9229del
NM_001291869.1:c.239+9228_239+9229del	NP_001278798.1:n.239+9228_239+9229del
NM_001291872.1:c.50+7087_50+7088del	NP_001278801.1:n.50+7087_50+7088del
NM_001291873.1:c.50+7087_50+7088del	NP_001278802.1:n.50+7087_50+7088del
NM_001291874.1:c.50+7087_50+7088del	NP_001278803.1:n.50+7087_50+7088del
NM_001291875.1:c.-106+7087_-106+7088del	NP_001278804.1:n.-106+7087_-106+7088del
NM_006548.4:c.239+9228_239+9229del	NP_006539.3:n.239+9228_239+9229del
XM_011512338.1:c.239+9228_239+9229del	XP_011510640.1:n.239+9228_239+9229del
XM_011512339.1:c.239+9228_239+9229del	XP_011510641.1:n.239+9228_239+9229del
XM_011512341.1:c.239+9228_239+9229del	XP_011510643.1:n.239+9228_239+9229del
XR_427358.2:n.318+9228_318+9229del
NM_001007225.2:c.239+9228_239+9229del	NP_001007226.1:n.239+9228_239+9229del
NM_001291869.2:c.239+9228_239+9229del	NP_001278798.1:n.239+9228_239+9229del
NM_001291872.2:c.50+7087_50+7088del	NP_001278801.1:n.50+7087_50+7088del
NM_001291873.2:c.50+7087_50+7088del	NP_001278802.1:n.50+7087_50+7088del
NM_001291874.2:c.50+7087_50+7088del	NP_001278803.1:n.50+7087_50+7088del
NM_001291875.2:c.-106+7087_-106+7088del	NP_001278804.1:n.-106+7087_-106+7088del
NM_006548.5:c.239+9228_239+9229del	NP_006539.3:n.239+9228_239+9229del
NR_138486.1:n.335+9228_335+9229del
XM_017005557.2:c.178+10858_178+10859del	XP_016861046.1:n.178+10858_178+10859del
XM_017005558.2:c.239+9228_239+9229del	XP_016861047.1:n.239+9228_239+9229del
XM_017005559.2:c.239+9228_239+9229del	XP_016861048.1:n.239+9228_239+9229del
XM_017005560.2:c.35+9228_35+9229del	XP_016861049.1:n.35+9228_35+9229del
XM_017005561.1:c.239+9228_239+9229del	XP_016861050.1:n.239+9228_239+9229del
XM_017005562.1:c.239+9228_239+9229del	XP_016861051.1:n.239+9228_239+9229del
XM_017005563.1:c.239+9228_239+9229del	XP_016861052.1:n.239+9228_239+9229del
XM_017005564.1:c.239+9228_239+9229del	XP_016861053.1:n.239+9228_239+9229del
XM_024453316.1:c.-170+10858_-170+10859del	XP_024309084.1:n.-170+10858_-170+10859del
XR_001739984.2:n.324+9228_324+9229del
NM_001007225.3:c.239+9228_239+9229del	NP_001007226.1:n.239+9228_239+9229del
NM_001291869.3:c.239+9228_239+9229del	NP_001278798.1:n.239+9228_239+9229del
NM_001291872.3:c.50+7087_50+7088del	NP_001278801.1:n.50+7087_50+7088del
NM_001291874.3:c.50+7087_50+7088del	NP_001278803.1:n.50+7087_50+7088del
NM_001291875.3:c.-106+7087_-106+7088del	NP_001278804.1:n.-106+7087_-106+7088del
NM_006548.6:c.239+9228_239+9229del MANE Select	NP_006539.3:n.239+9228_239+9229del
NR_138486.2:n.321+9228_321+9229del
NM_001291873.3:c.50+7087_50+7088del	NP_001278802.1:n.50+7087_50+7088del