Canonical Allele Identifier: CA123079

Gene: INS INS-IGF2

Linked Data

• ClinVar Variation Id: 13380
• ClinVar RCV Id: RCV000014310 ; RCV001091846 ; RCV003407328
• dbSNP Id: rs28933985
• ExAC: 11:2181149 C / T
• gnomAD v2: 11-2181149-C-T
• gnomAD v3: 11-2159919-C-T
• gnomAD v4: 11-2159919-C-T
• MyVariant Identifiers: chr11:g.2181149C>T (hg19) ; chr11:g.2159919C>T (hg38)
• PubMed: PMID:2196279 ; PMID:4019786 ; PMID:6368587 ; PMID:7242673 ; PMID:8636380 ; PMID:9667398

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2159919C>T , CM000673.2:g.2159919C>T	GRCh38
NC_000011.9:g.2181149C>T , CM000673.1:g.2181149C>T	GRCh37
NC_000011.8:g.2137725C>T	NCBI36
NG_007114.1:g.6276G>A
NG_050578.1:g.6291G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000381330.5:c.266G>A (INS) MANE Select	ENSP00000370731.5:p.Arg89His
ENST00000250971.7:c.266G>A (INS)	ENSP00000250971.3:p.Arg89His
ENST00000356578.8:c.187+866G>A (INS-IGF2)	ENSP00000348986.4:n.187+866G>A
ENST00000381330.4:c.266G>A (INS)	ENSP00000370731.4:p.Arg89His
ENST00000397262.5:c.266G>A (INS)	ENSP00000380432.1:p.Arg89His
ENST00000397270.1:c.187+866G>A (INS-IGF2)	ENSP00000380440.1:n.187+866G>A
ENST00000421783.1:c.188-47G>A (INS)	ENSP00000408400.1:n.188-47G>A
ENST00000512523.1:c.230G>A (INS)	ENSP00000424008.1:p.Arg77His
NM_000207.2:c.266G>A (INS)	NP_000198.1:p.Arg89His
NM_001042376.2:c.187+866G>A (INS-IGF2)	NP_001035835.1:n.187+866G>A
NM_001185097.1:c.266G>A (INS)	NP_001172026.1:p.Arg89His
NM_001185098.1:c.266G>A (INS)	NP_001172027.1:p.Arg89His
NM_001291897.1:c.266G>A (INS)	NP_001278826.1:p.Arg89His
NR_003512.3:n.246+866G>A (INS-IGF2)
NM_000207.3:c.266G>A (INS) MANE Select	NP_000198.1:p.Arg89His
NM_001042376.3:c.187+866G>A (INS-IGF2)	NP_001035835.1:n.187+866G>A
NM_001185097.2:c.266G>A (INS)	NP_001172026.1:p.Arg89His
NM_001291897.2:c.266G>A (INS)	NP_001278826.1:p.Arg89His
NR_003512.4:n.246+866G>A (INS-IGF2)
NM_001185098.2:c.266G>A (INS)	NP_001172027.1:p.Arg89His