Canonical Allele Identifier: CA10586325

Gene: INS INS-IGF2

Linked Data

• ClinVar Variation Id: 253331
• ClinVar RCV Id: RCV000240176
• dbSNP Id: rs886037863
• MyVariant Identifiers: chr11:g.2182077A>G (hg19) ; chr11:g.2160847A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2160847A>G , CM000673.2:g.2160847A>G	GRCh38
NC_000011.9:g.2182077A>G , CM000673.1:g.2182077A>G	GRCh37
NC_000011.8:g.2138653A>G	NCBI36
NG_007114.1:g.5348T>C
NG_050578.1:g.5363T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381330.5:c.125T>C (INS) MANE Select	ENSP00000370731.5:p.Val42Ala
ENST00000250971.7:c.125T>C (INS)	ENSP00000250971.3:p.Val42Ala
ENST00000356578.8:c.125T>C (INS-IGF2)	ENSP00000348986.4:p.Val42Ala
ENST00000381330.4:c.125T>C (INS)	ENSP00000370731.4:p.Val42Ala
ENST00000397262.5:c.125T>C (INS)	ENSP00000380432.1:p.Val42Ala
ENST00000397270.1:c.125T>C (INS-IGF2)	ENSP00000380440.1:p.Val42Ala
ENST00000421783.1:c.125T>C (INS)	ENSP00000408400.1:p.Val42Ala
ENST00000512523.1:c.125T>C (INS)	ENSP00000424008.1:p.Val42Ala
NM_000207.2:c.125T>C (INS)	NP_000198.1:p.Val42Ala
NM_001042376.2:c.125T>C (INS-IGF2)	NP_001035835.1:p.Val42Ala
NM_001185097.1:c.125T>C (INS)	NP_001172026.1:p.Val42Ala
NM_001185098.1:c.125T>C (INS)	NP_001172027.1:p.Val42Ala
NM_001291897.1:c.125T>C (INS)	NP_001278826.1:p.Val42Ala
NR_003512.3:n.184T>C (INS-IGF2)
NM_000207.3:c.125T>C (INS) MANE Select	NP_000198.1:p.Val42Ala
NM_001042376.3:c.125T>C (INS-IGF2)	NP_001035835.1:p.Val42Ala
NM_001185097.2:c.125T>C (INS)	NP_001172026.1:p.Val42Ala
NM_001291897.2:c.125T>C (INS)	NP_001278826.1:p.Val42Ala
NR_003512.4:n.184T>C (INS-IGF2)
NM_001185098.2:c.125T>C (INS)	NP_001172027.1:p.Val42Ala