Canonical Allele Identifier: CA1057337911

Gene: IGF2BP2

Linked Data

• gnomAD v3: 3-185794292-GCCCTC-G
• gnomAD v4: 3-185794292-GCCCTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.185794293_185794297del , CM000665.2:g.185794293_185794297del	GRCh38
NC_000003.11:g.185512081_185512085del , CM000665.1:g.185512081_185512085del	GRCh37
NC_000003.10:g.186994775_186994779del	NCBI36
NG_011602.1:g.35743_35747del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382199.7:c.239+28856_239+28860del MANE Select	ENSP00000371634.3:n.239+28856_239+28860del
ENST00000346192.7:c.239+28856_239+28860del	ENSP00000320204.5:n.239+28856_239+28860del
ENST00000382199.6:c.239+28856_239+28860del	ENSP00000371634.2:n.239+28856_239+28860del
ENST00000421047.3:c.50+26715_50+26719del	ENSP00000413787.3:n.50+26715_50+26719del
ENST00000457616.6:c.239+28856_239+28860del	ENSP00000410242.2:n.239+28856_239+28860del
ENST00000461957.5:n.119+28856_119+28860del
ENST00000466476.1:n.171+28856_171+28860del
ENST00000493302.5:n.120+26715_120+26719del
NM_001007225.1:c.239+28856_239+28860del	NP_001007226.1:n.239+28856_239+28860del
NM_001291869.1:c.239+28856_239+28860del	NP_001278798.1:n.239+28856_239+28860del
NM_001291872.1:c.50+26715_50+26719del	NP_001278801.1:n.50+26715_50+26719del
NM_001291873.1:c.50+26715_50+26719del	NP_001278802.1:n.50+26715_50+26719del
NM_001291874.1:c.50+26715_50+26719del	NP_001278803.1:n.50+26715_50+26719del
NM_001291875.1:c.-106+26715_-106+26719del	NP_001278804.1:n.-106+26715_-106+26719del
NM_006548.4:c.239+28856_239+28860del	NP_006539.3:n.239+28856_239+28860del
XM_011512338.1:c.239+28856_239+28860del	XP_011510640.1:n.239+28856_239+28860del
XM_011512339.1:c.239+28856_239+28860del	XP_011510641.1:n.239+28856_239+28860del
XM_011512341.1:c.239+28856_239+28860del	XP_011510643.1:n.239+28856_239+28860del
XR_427358.2:n.318+28856_318+28860del
NM_001007225.2:c.239+28856_239+28860del	NP_001007226.1:n.239+28856_239+28860del
NM_001291869.2:c.239+28856_239+28860del	NP_001278798.1:n.239+28856_239+28860del
NM_001291872.2:c.50+26715_50+26719del	NP_001278801.1:n.50+26715_50+26719del
NM_001291873.2:c.50+26715_50+26719del	NP_001278802.1:n.50+26715_50+26719del
NM_001291874.2:c.50+26715_50+26719del	NP_001278803.1:n.50+26715_50+26719del
NM_001291875.2:c.-106+26715_-106+26719del	NP_001278804.1:n.-106+26715_-106+26719del
NM_006548.5:c.239+28856_239+28860del	NP_006539.3:n.239+28856_239+28860del
NR_138486.1:n.335+28856_335+28860del
XM_017005557.2:c.178+30486_178+30490del	XP_016861046.1:n.178+30486_178+30490del
XM_017005558.2:c.239+28856_239+28860del	XP_016861047.1:n.239+28856_239+28860del
XM_017005559.2:c.239+28856_239+28860del	XP_016861048.1:n.239+28856_239+28860del
XM_017005560.2:c.35+28856_35+28860del	XP_016861049.1:n.35+28856_35+28860del
XM_017005561.1:c.239+28856_239+28860del	XP_016861050.1:n.239+28856_239+28860del
XM_017005562.1:c.239+28856_239+28860del	XP_016861051.1:n.239+28856_239+28860del
XM_017005563.1:c.239+28856_239+28860del	XP_016861052.1:n.239+28856_239+28860del
XM_017005564.1:c.239+28856_239+28860del	XP_016861053.1:n.239+28856_239+28860del
XM_024453316.1:c.-170+30486_-170+30490del	XP_024309084.1:n.-170+30486_-170+30490del
XR_001739984.2:n.324+28856_324+28860del
NM_001007225.3:c.239+28856_239+28860del	NP_001007226.1:n.239+28856_239+28860del
NM_001291869.3:c.239+28856_239+28860del	NP_001278798.1:n.239+28856_239+28860del
NM_001291872.3:c.50+26715_50+26719del	NP_001278801.1:n.50+26715_50+26719del
NM_001291874.3:c.50+26715_50+26719del	NP_001278803.1:n.50+26715_50+26719del
NM_001291875.3:c.-106+26715_-106+26719del	NP_001278804.1:n.-106+26715_-106+26719del
NM_006548.6:c.239+28856_239+28860del MANE Select	NP_006539.3:n.239+28856_239+28860del
NR_138486.2:n.321+28856_321+28860del
NM_001291873.3:c.50+26715_50+26719del	NP_001278802.1:n.50+26715_50+26719del