Canonical Allele Identifier: CA903840981

Gene: IGF2BP2

Linked Data

• dbSNP Id: rs576340143
• gnomAD v3: 3-185793957-CTTTTTTT-C
• gnomAD v4: 3-185793957-CTTTTTTT-C
• MyVariant Identifiers: chr3:g.185511746_185511752del (hg19) ; chr3:g.185793958_185793964del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.185793970_185793976del , CM000665.2:g.185793970_185793976del	GRCh38
NC_000003.11:g.185511758_185511764del , CM000665.1:g.185511758_185511764del	GRCh37
NC_000003.10:g.186994452_186994458del	NCBI36
NG_011602.1:g.36076_36082del

Transcript Alleles

HGVS	Amino-acid change
ENST00000382199.7:c.239+29189_239+29195del MANE Select	ENSP00000371634.3:n.239+29189_239+29195de...
ENST00000346192.7:c.239+29189_239+29195del	ENSP00000320204.5:n.239+29189_239+29195de...
ENST00000382199.6:c.239+29189_239+29195del	ENSP00000371634.2:n.239+29189_239+29195de...
ENST00000421047.3:c.50+27048_50+27054del	ENSP00000413787.3:n.50+27048_50+27054del
ENST00000457616.6:c.239+29189_239+29195del	ENSP00000410242.2:n.239+29189_239+29195de...
ENST00000461957.5:n.119+29189_119+29195del
ENST00000466476.1:n.171+29189_171+29195del
ENST00000493302.5:n.120+27048_120+27054del
NM_001007225.1:c.239+29189_239+29195del	NP_001007226.1:n.239+29189_239+29195del
NM_001291869.1:c.239+29189_239+29195del	NP_001278798.1:n.239+29189_239+29195del
NM_001291872.1:c.50+27048_50+27054del	NP_001278801.1:n.50+27048_50+27054del
NM_001291873.1:c.50+27048_50+27054del	NP_001278802.1:n.50+27048_50+27054del
NM_001291874.1:c.50+27048_50+27054del	NP_001278803.1:n.50+27048_50+27054del
NM_001291875.1:c.-106+27048_-106+27054del	NP_001278804.1:n.-106+27048_-106+27054del...
NM_006548.4:c.239+29189_239+29195del	NP_006539.3:n.239+29189_239+29195del
XM_011512338.1:c.239+29189_239+29195del	XP_011510640.1:n.239+29189_239+29195del
XM_011512339.1:c.239+29189_239+29195del	XP_011510641.1:n.239+29189_239+29195del
XM_011512341.1:c.239+29189_239+29195del	XP_011510643.1:n.239+29189_239+29195del
XR_427358.2:n.318+29189_318+29195del
NM_001007225.2:c.239+29189_239+29195del	NP_001007226.1:n.239+29189_239+29195del
NM_001291869.2:c.239+29189_239+29195del	NP_001278798.1:n.239+29189_239+29195del
NM_001291872.2:c.50+27048_50+27054del	NP_001278801.1:n.50+27048_50+27054del
NM_001291873.2:c.50+27048_50+27054del	NP_001278802.1:n.50+27048_50+27054del
NM_001291874.2:c.50+27048_50+27054del	NP_001278803.1:n.50+27048_50+27054del
NM_001291875.2:c.-106+27048_-106+27054del	NP_001278804.1:n.-106+27048_-106+27054del...
NM_006548.5:c.239+29189_239+29195del	NP_006539.3:n.239+29189_239+29195del
NR_138486.1:n.335+29189_335+29195del
XM_017005557.2:c.178+30819_178+30825del	XP_016861046.1:n.178+30819_178+30825del
XM_017005558.2:c.239+29189_239+29195del	XP_016861047.1:n.239+29189_239+29195del
XM_017005559.2:c.239+29189_239+29195del	XP_016861048.1:n.239+29189_239+29195del
XM_017005560.2:c.35+29189_35+29195del	XP_016861049.1:n.35+29189_35+29195del
XM_017005561.1:c.239+29189_239+29195del	XP_016861050.1:n.239+29189_239+29195del
XM_017005562.1:c.239+29189_239+29195del	XP_016861051.1:n.239+29189_239+29195del
XM_017005563.1:c.239+29189_239+29195del	XP_016861052.1:n.239+29189_239+29195del
XM_017005564.1:c.239+29189_239+29195del	XP_016861053.1:n.239+29189_239+29195del
XM_024453316.1:c.-170+30819_-170+30825del	XP_024309084.1:n.-170+30819_-170+30825del...
XR_001739984.2:n.324+29189_324+29195del
NM_001007225.3:c.239+29189_239+29195del	NP_001007226.1:n.239+29189_239+29195del
NM_001291869.3:c.239+29189_239+29195del	NP_001278798.1:n.239+29189_239+29195del
NM_001291872.3:c.50+27048_50+27054del	NP_001278801.1:n.50+27048_50+27054del
NM_001291874.3:c.50+27048_50+27054del	NP_001278803.1:n.50+27048_50+27054del
NM_001291875.3:c.-106+27048_-106+27054del	NP_001278804.1:n.-106+27048_-106+27054del...
NM_006548.6:c.239+29189_239+29195del MANE Select	NP_006539.3:n.239+29189_239+29195del
NR_138486.2:n.321+29189_321+29195del
NM_001291873.3:c.50+27048_50+27054del	NP_001278802.1:n.50+27048_50+27054del