Canonical Allele Identifier: CA379118277

Gene: IGF2 INS-IGF2

Linked Data

• ClinVar Variation Id: 930637
• ClinVar RCV Id: RCV001196443
• dbSNP Id: rs1860168345
• MyVariant Identifiers: chr11:g.2170426T>G (hg19) ; chr11:g.2149196T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2149196T>G , CM000673.2:g.2149196T>G	GRCh38
NC_000011.9:g.2170426T>G , CM000673.1:g.2170426T>G	GRCh37
NC_000011.8:g.2127002T>G	NCBI36
NG_008849.1:g.5408A>C
NG_050578.1:g.17014A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481781.3:c.-319A>C (IGF2)	ENSP00000511998.1:n.-319A>C
ENST00000643349.2:c.184A>C	ENSP00000495715.1:p.Thr62Pro
ENST00000695541.1:c.-319A>C (IGF2)	ENSP00000511997.1:n.-319A>C
ENST00000481781.2:n.275A>C
ENST00000643349.1:c.184A>C	ENSP00000495715.1:p.Thr62Pro
ENST00000356578.8:c.337A>C (INS-IGF2)	ENSP00000348986.4:p.Thr113Pro
ENST00000397270.1:c.337A>C (INS-IGF2)	ENSP00000380440.1:p.Thr113Pro
ENST00000476874.1:n.220A>C (INS-IGF2)
ENST00000481781.1:n.542A>C (INS-IGF2)
NM_001007139.5:c.-319A>C (IGF2)	NP_001007140.2:n.-319A>C
NM_001042376.2:c.337A>C (INS-IGF2)	NP_001035835.1:p.Thr113Pro
NR_003512.3:n.396A>C (INS-IGF2)
NM_001042376.3:c.337A>C (INS-IGF2)	NP_001035835.1:p.Thr113Pro
NR_003512.4:n.396A>C (INS-IGF2)
NM_001007139.6:c.-319A>C (IGF2)	NP_001007140.2:n.-319A>C