Canonical Allele Identifier: CA1057337839

Gene: IGF2BP2

Linked Data

• gnomAD v3: 3-185794247-TGA-T
• gnomAD v4: 3-185794247-TGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.185794249_185794250del , CM000665.2:g.185794249_185794250del	GRCh38
NC_000003.11:g.185512037_185512038del , CM000665.1:g.185512037_185512038del	GRCh37
NC_000003.10:g.186994731_186994732del	NCBI36
NG_011602.1:g.35791_35792del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382199.7:c.239+28904_239+28905del MANE Select	ENSP00000371634.3:n.239+28904_239+28905del
ENST00000346192.7:c.239+28904_239+28905del	ENSP00000320204.5:n.239+28904_239+28905del
ENST00000382199.6:c.239+28904_239+28905del	ENSP00000371634.2:n.239+28904_239+28905del
ENST00000421047.3:c.50+26763_50+26764del	ENSP00000413787.3:n.50+26763_50+26764del
ENST00000457616.6:c.239+28904_239+28905del	ENSP00000410242.2:n.239+28904_239+28905del
ENST00000461957.5:n.119+28904_119+28905del
ENST00000466476.1:n.171+28904_171+28905del
ENST00000493302.5:n.120+26763_120+26764del
NM_001007225.1:c.239+28904_239+28905del	NP_001007226.1:n.239+28904_239+28905del
NM_001291869.1:c.239+28904_239+28905del	NP_001278798.1:n.239+28904_239+28905del
NM_001291872.1:c.50+26763_50+26764del	NP_001278801.1:n.50+26763_50+26764del
NM_001291873.1:c.50+26763_50+26764del	NP_001278802.1:n.50+26763_50+26764del
NM_001291874.1:c.50+26763_50+26764del	NP_001278803.1:n.50+26763_50+26764del
NM_001291875.1:c.-106+26763_-106+26764del	NP_001278804.1:n.-106+26763_-106+26764del
NM_006548.4:c.239+28904_239+28905del	NP_006539.3:n.239+28904_239+28905del
XM_011512338.1:c.239+28904_239+28905del	XP_011510640.1:n.239+28904_239+28905del
XM_011512339.1:c.239+28904_239+28905del	XP_011510641.1:n.239+28904_239+28905del
XM_011512341.1:c.239+28904_239+28905del	XP_011510643.1:n.239+28904_239+28905del
XR_427358.2:n.318+28904_318+28905del
NM_001007225.2:c.239+28904_239+28905del	NP_001007226.1:n.239+28904_239+28905del
NM_001291869.2:c.239+28904_239+28905del	NP_001278798.1:n.239+28904_239+28905del
NM_001291872.2:c.50+26763_50+26764del	NP_001278801.1:n.50+26763_50+26764del
NM_001291873.2:c.50+26763_50+26764del	NP_001278802.1:n.50+26763_50+26764del
NM_001291874.2:c.50+26763_50+26764del	NP_001278803.1:n.50+26763_50+26764del
NM_001291875.2:c.-106+26763_-106+26764del	NP_001278804.1:n.-106+26763_-106+26764del
NM_006548.5:c.239+28904_239+28905del	NP_006539.3:n.239+28904_239+28905del
NR_138486.1:n.335+28904_335+28905del
XM_017005557.2:c.178+30534_178+30535del	XP_016861046.1:n.178+30534_178+30535del
XM_017005558.2:c.239+28904_239+28905del	XP_016861047.1:n.239+28904_239+28905del
XM_017005559.2:c.239+28904_239+28905del	XP_016861048.1:n.239+28904_239+28905del
XM_017005560.2:c.35+28904_35+28905del	XP_016861049.1:n.35+28904_35+28905del
XM_017005561.1:c.239+28904_239+28905del	XP_016861050.1:n.239+28904_239+28905del
XM_017005562.1:c.239+28904_239+28905del	XP_016861051.1:n.239+28904_239+28905del
XM_017005563.1:c.239+28904_239+28905del	XP_016861052.1:n.239+28904_239+28905del
XM_017005564.1:c.239+28904_239+28905del	XP_016861053.1:n.239+28904_239+28905del
XM_024453316.1:c.-170+30534_-170+30535del	XP_024309084.1:n.-170+30534_-170+30535del
XR_001739984.2:n.324+28904_324+28905del
NM_001007225.3:c.239+28904_239+28905del	NP_001007226.1:n.239+28904_239+28905del
NM_001291869.3:c.239+28904_239+28905del	NP_001278798.1:n.239+28904_239+28905del
NM_001291872.3:c.50+26763_50+26764del	NP_001278801.1:n.50+26763_50+26764del
NM_001291874.3:c.50+26763_50+26764del	NP_001278803.1:n.50+26763_50+26764del
NM_001291875.3:c.-106+26763_-106+26764del	NP_001278804.1:n.-106+26763_-106+26764del
NM_006548.6:c.239+28904_239+28905del MANE Select	NP_006539.3:n.239+28904_239+28905del
NR_138486.2:n.321+28904_321+28905del
NM_001291873.3:c.50+26763_50+26764del	NP_001278802.1:n.50+26763_50+26764del