Canonical Allele Identifier: CA5818030

Gene: IGF2 INS-IGF2

Linked Data

• dbSNP Id: rs543179100
• ExAC: 11:2170401 A / G
• gnomAD v2: 11-2170401-A-G
• gnomAD v3: 11-2149171-A-G
• gnomAD v4: 11-2149171-A-G
• MyVariant Identifiers: chr11:g.2170401A>G (hg19) ; chr11:g.2149171A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2149171A>G , CM000673.2:g.2149171A>G	GRCh38
NC_000011.9:g.2170401A>G , CM000673.1:g.2170401A>G	GRCh37
NC_000011.8:g.2126977A>G	NCBI36
NG_008849.1:g.5433T>C
NG_050578.1:g.17039T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481781.3:c.-294T>C (IGF2)	ENSP00000511998.1:n.-294T>C
ENST00000643349.2:c.209T>C	ENSP00000495715.1:p.Ile70Thr
ENST00000695541.1:c.-294T>C (IGF2)	ENSP00000511997.1:n.-294T>C
ENST00000481781.2:n.300T>C
ENST00000643349.1:c.209T>C	ENSP00000495715.1:p.Ile70Thr
ENST00000356578.8:c.362T>C (INS-IGF2)	ENSP00000348986.4:p.Ile121Thr
ENST00000397270.1:c.362T>C (INS-IGF2)	ENSP00000380440.1:p.Ile121Thr
ENST00000476874.1:n.245T>C (INS-IGF2)
ENST00000481781.1:n.567T>C (INS-IGF2)
NM_001007139.5:c.-294T>C (IGF2)	NP_001007140.2:n.-294T>C
NM_001042376.2:c.362T>C (INS-IGF2)	NP_001035835.1:p.Ile121Thr
NR_003512.3:n.421T>C (INS-IGF2)
NM_001042376.3:c.362T>C (INS-IGF2)	NP_001035835.1:p.Ile121Thr
NR_003512.4:n.421T>C (INS-IGF2)
NM_001007139.6:c.-294T>C (IGF2)	NP_001007140.2:n.-294T>C