Canonical Allele Identifier: CA5818071

Gene: IGF2 INS-IGF2

Linked Data

• dbSNP Id: rs780612983
• ExAC: 11:2170594 C / T
• gnomAD v2: 11-2170594-C-T
• gnomAD v4: 11-2149364-C-T
• MyVariant Identifiers: chr11:g.2170594C>T (hg19) ; chr11:g.2149364C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2149364C>T , CM000673.2:g.2149364C>T	GRCh38
NC_000011.9:g.2170594C>T , CM000673.1:g.2170594C>T	GRCh37
NC_000011.8:g.2127170C>T	NCBI36
NG_008849.1:g.5240G>A
NG_050578.1:g.16846G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481781.3:c.-468-19G>A (IGF2)	ENSP00000511998.1:n.-468-19G>A
ENST00000643349.2:c.16G>A	ENSP00000495715.1:p.Val6Met
ENST00000695541.1:c.-468-19G>A (IGF2)	ENSP00000511997.1:n.-468-19G>A
ENST00000481781.2:n.126-19G>A
ENST00000643349.1:c.16G>A	ENSP00000495715.1:p.Val6Met
ENST00000356578.8:c.188-19G>A (INS-IGF2)	ENSP00000348986.4:n.188-19G>A
ENST00000397270.1:c.188-19G>A (INS-IGF2)	ENSP00000380440.1:n.188-19G>A
ENST00000476874.1:n.71-19G>A (INS-IGF2)
ENST00000481781.1:n.393-19G>A (INS-IGF2)
NM_001007139.5:c.-487G>A (IGF2)	NP_001007140.2:n.-487G>A
NM_001042376.2:c.188-19G>A (INS-IGF2)	NP_001035835.1:n.188-19G>A
NR_003512.3:n.247-19G>A (INS-IGF2)
NM_001042376.3:c.188-19G>A (INS-IGF2)	NP_001035835.1:n.188-19G>A
NR_003512.4:n.247-19G>A (INS-IGF2)
NM_001007139.6:c.-487G>A (IGF2)	NP_001007140.2:n.-487G>A