Canonical Allele Identifier: CA16616844

Gene: IGF2 INS-IGF2

Linked Data

• ClinVar Variation Id: 253036
• ClinVar RCV Id: RCV000479354 ; RCV000491853
• dbSNP Id: rs1064794050
• MyVariant Identifiers: chr11:g.2156676G>C (hg19) ; chr11:g.2135446G>C (hg38)
• PubMed: PMID:28796236

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2135446G>C , CM000673.2:g.2135446G>C	GRCh38
NC_000011.9:g.2156676G>C , CM000673.1:g.2156676G>C	GRCh37
NC_000011.8:g.2113252G>C	NCBI36
NG_008849.1:g.19158C>G
NG_050578.1:g.30764C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481781.3:c.78C>G (IGF2)	ENSP00000511998.1:p.Tyr26Ter
ENST00000643349.2:c.*130C>G	ENSP00000495715.1:n.*130C>G
ENST00000695541.1:c.78C>G (IGF2)	ENSP00000511997.1:p.Tyr26Ter
ENST00000416167.7:c.78C>G (IGF2) MANE Select	ENSP00000414497.2:p.Tyr26Ter
ENST00000643349.1:c.*130C>G	ENSP00000495715.1:n.*130C>G
ENST00000356578.8:c.*130C>G (INS-IGF2)	ENSP00000348986.4:n.*130C>G
ENST00000381389.5:c.78C>G (IGF2)	ENSP00000370796.1:p.Tyr26Ter
ENST00000381392.5:c.78C>G (IGF2)	ENSP00000370799.1:p.Tyr26Ter
ENST00000381395.5:c.78C>G (IGF2)	ENSP00000370802.1:p.Tyr26Ter
ENST00000381406.8:c.78C>G (IGF2)	ENSP00000370813.4:p.Tyr26Ter
ENST00000416167.6:c.78C>G (IGF2)	ENSP00000414497.2:p.Tyr26Ter
ENST00000418738.2:c.78C>G (IGF2)	ENSP00000402047.2:p.Tyr26Ter
ENST00000434045.6:c.246C>G (IGF2)	ENSP00000391826.2:p.Tyr82Ter
NM_000612.5:c.78C>G (IGF2)	NP_000603.1:p.Tyr26Ter
NM_001007139.5:c.78C>G (IGF2)	NP_001007140.2:p.Tyr26Ter
NM_001127598.2:c.246C>G (IGF2)	NP_001121070.1:p.Tyr82Ter
NM_001291861.2:c.78C>G (IGF2)	NP_001278790.1:p.Tyr26Ter
NM_001291862.2:c.78C>G (IGF2)	NP_001278791.1:p.Tyr26Ter
NR_003512.3:n.792C>G (INS-IGF2)
NM_000612.6:c.78C>G (IGF2) MANE Select	NP_000603.1:p.Tyr26Ter
NM_001127598.3:c.246C>G (IGF2)	NP_001121070.1:p.Tyr82Ter
NM_001291861.3:c.78C>G (IGF2)	NP_001278790.1:p.Tyr26Ter
NM_001291862.3:c.78C>G (IGF2)	NP_001278791.1:p.Tyr26Ter
NR_003512.4:n.792C>G (INS-IGF2)
NM_001007139.6:c.78C>G (IGF2)	NP_001007140.2:p.Tyr26Ter