Canonical Allele Identifier: CA5817613

Gene: IGF2 INS-IGF2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2133091C>G , CM000673.2:g.2133091C>G	GRCh38
NC_000011.9:g.2154321C>G , CM000673.1:g.2154321C>G	GRCh37
NC_000011.8:g.2110897C>G	NCBI36
NG_008849.1:g.21513G>C
NG_050578.1:g.33119G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481781.3:c.439G>C (IGF2)	ENSP00000511998.1:p.Glu147Gln
ENST00000643349.2:c.*491G>C	ENSP00000495715.1:n.*491G>C
ENST00000695541.1:c.439G>C (IGF2)	ENSP00000511997.1:p.Glu147Gln
ENST00000416167.7:c.439G>C (IGF2) MANE Select	ENSP00000414497.2:p.Glu147Gln
ENST00000643349.1:c.*491G>C	ENSP00000495715.1:n.*491G>C
ENST00000356578.8:c.*491G>C (INS-IGF2)	ENSP00000348986.4:n.*491G>C
ENST00000381389.5:c.439G>C (IGF2)	ENSP00000370796.1:p.Glu147Gln
ENST00000381392.5:c.448G>C (IGF2)	ENSP00000370799.1:p.Glu150Gln
ENST00000381395.5:c.439G>C (IGF2)	ENSP00000370802.1:p.Glu147Gln
ENST00000381406.8:c.448G>C (IGF2)	ENSP00000370813.4:p.Glu150Gln
ENST00000416167.6:c.439G>C (IGF2)	ENSP00000414497.2:p.Glu147Gln
ENST00000418738.2:c.439G>C (IGF2)	ENSP00000402047.2:p.Glu147Gln
ENST00000434045.6:c.607G>C (IGF2)	ENSP00000391826.2:p.Glu203Gln
NM_000612.5:c.439G>C (IGF2)	NP_000603.1:p.Glu147Gln
NM_001007139.5:c.439G>C (IGF2)	NP_001007140.2:p.Glu147Gln
NM_001127598.2:c.607G>C (IGF2)	NP_001121070.1:p.Glu203Gln
NM_001291861.2:c.439G>C (IGF2)	NP_001278790.1:p.Glu147Gln
NM_001291862.2:c.439G>C (IGF2)	NP_001278791.1:p.Glu147Gln
NR_003512.3:n.1153G>C (INS-IGF2)
NM_000612.6:c.439G>C (IGF2) MANE Select	NP_000603.1:p.Glu147Gln
NM_001127598.3:c.607G>C (IGF2)	NP_001121070.1:p.Glu203Gln
NM_001291861.3:c.439G>C (IGF2)	NP_001278790.1:p.Glu147Gln
NM_001291862.3:c.439G>C (IGF2)	NP_001278791.1:p.Glu147Gln
NR_003512.4:n.1153G>C (INS-IGF2)
NM_001007139.6:c.439G>C (IGF2)	NP_001007140.2:p.Glu147Gln