Canonical Allele Identifier: CA5817930

Gene: IGF2 INS-IGF2 IGF2-AS

Linked Data

• dbSNP Id: rs749888198
• ExAC: 11:2167585 GGGCGCCGCAGACGA / G
• gnomAD v2: 11-2167585-GGGCGCCGCAGACGA-G
• gnomAD v3: 11-2146355-GGGCGCCGCAGACGA-G
• gnomAD v4: 11-2146355-GGGCGCCGCAGACGA-G
• MyVariant Identifiers: chr11:g.2167586_2167599del (hg19) ; chr11:g.2146356_2146369del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2146361_2146374del , CM000673.2:g.2146361_2146374del	GRCh38
NC_000011.9:g.2167591_2167604del , CM000673.1:g.2167591_2167604del	GRCh37
NC_000011.8:g.2124167_2124180del	NCBI36
NG_008849.1:g.8235_8248del
NG_050578.1:g.19841_19854del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481781.3:c.-7+1197_-7+1210del (IGF2)	ENSP00000511998.1:n.-7+1197_-7+1210del
ENST00000643349.2:c.*46+1197_*46+1210del	ENSP00000495715.1:n.*46+1197_*46+1210del
ENST00000695541.1:c.-7+1197_-7+1210del (IGF2)	ENSP00000511997.1:n.-7+1197_-7+1210del
ENST00000643349.1:c.*46+1197_*46+1210del	ENSP00000495715.1:n.*46+1197_*46+1210del
ENST00000356578.8:c.*46+1197_*46+1210del (INS-IGF2)	ENSP00000348986.4:n.*46+1197_*46+1210del
NM_001007139.5:c.-7+1197_-7+1210del (IGF2)	NP_001007140.2:n.-7+1197_-7+1210del
NR_003512.3:n.708+1197_708+1210del (INS-IGF2)
NR_028043.2:n.553_566del (IGF2-AS)
NR_133657.1:n.442_455del (IGF2-AS)
NR_003512.4:n.708+1197_708+1210del (INS-IGF2)
NM_001007139.6:c.-7+1197_-7+1210del (IGF2)	NP_001007140.2:n.-7+1197_-7+1210del