Canonical Allele Identifier: CA379118335

Gene: IGF2 INS-IGF2

Linked Data

• ClinVar Variation Id: 2294281
• ClinVar RCV Id: RCV004140416
• MyVariant Identifiers: chr11:g.2170438T>C (hg19) ; chr11:g.2149208T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2149208T>C , CM000673.2:g.2149208T>C	GRCh38
NC_000011.9:g.2170438T>C , CM000673.1:g.2170438T>C	GRCh37
NC_000011.8:g.2127014T>C	NCBI36
NG_008849.1:g.5396A>G
NG_050578.1:g.17002A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481781.3:c.-331A>G (IGF2)	ENSP00000511998.1:n.-331A>G
ENST00000643349.2:c.172A>G	ENSP00000495715.1:p.Arg58Gly
ENST00000695541.1:c.-331A>G (IGF2)	ENSP00000511997.1:n.-331A>G
ENST00000481781.2:n.263A>G
ENST00000643349.1:c.172A>G	ENSP00000495715.1:p.Arg58Gly
ENST00000356578.8:c.325A>G (INS-IGF2)	ENSP00000348986.4:p.Arg109Gly
ENST00000397270.1:c.325A>G (INS-IGF2)	ENSP00000380440.1:p.Arg109Gly
ENST00000476874.1:n.208A>G (INS-IGF2)
ENST00000481781.1:n.530A>G (INS-IGF2)
NM_001007139.5:c.-331A>G (IGF2)	NP_001007140.2:n.-331A>G
NM_001042376.2:c.325A>G (INS-IGF2)	NP_001035835.1:p.Arg109Gly
NR_003512.3:n.384A>G (INS-IGF2)
NM_001042376.3:c.325A>G (INS-IGF2)	NP_001035835.1:p.Arg109Gly
NR_003512.4:n.384A>G (INS-IGF2)
NM_001007139.6:c.-331A>G (IGF2)	NP_001007140.2:n.-331A>G