Canonical Allele Identifier: CA5818063

Gene: IGF2 INS-IGF2

Linked Data

• dbSNP Id: rs200726543
• ExAC: 11:2170548 G / C
• gnomAD v2: 11-2170548-G-C
• gnomAD v3: 11-2149318-G-C
• gnomAD v4: 11-2149318-G-C
• MyVariant Identifiers: chr11:g.2170548G>C (hg19) ; chr11:g.2149318G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2149318G>C , CM000673.2:g.2149318G>C	GRCh38
NC_000011.9:g.2170548G>C , CM000673.1:g.2170548G>C	GRCh37
NC_000011.8:g.2127124G>C	NCBI36
NG_008849.1:g.5286C>G
NG_050578.1:g.16892C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481781.3:c.-441C>G (IGF2)	ENSP00000511998.1:n.-441C>G
ENST00000643349.2:c.62C>G	ENSP00000495715.1:p.Thr21Arg
ENST00000695541.1:c.-441C>G (IGF2)	ENSP00000511997.1:n.-441C>G
ENST00000481781.2:n.153C>G
ENST00000643349.1:c.62C>G	ENSP00000495715.1:p.Thr21Arg
ENST00000356578.8:c.215C>G (INS-IGF2)	ENSP00000348986.4:p.Thr72Arg
ENST00000397270.1:c.215C>G (INS-IGF2)	ENSP00000380440.1:p.Thr72Arg
ENST00000476874.1:n.98C>G (INS-IGF2)
ENST00000481781.1:n.420C>G (INS-IGF2)
NM_001007139.5:c.-441C>G (IGF2)	NP_001007140.2:n.-441C>G
NM_001042376.2:c.215C>G (INS-IGF2)	NP_001035835.1:p.Thr72Arg
NR_003512.3:n.274C>G (INS-IGF2)
NM_001042376.3:c.215C>G (INS-IGF2)	NP_001035835.1:p.Thr72Arg
NR_003512.4:n.274C>G (INS-IGF2)
NM_001007139.6:c.-441C>G (IGF2)	NP_001007140.2:n.-441C>G