Canonical Allele Identifier: CA2517496181
Gene: INS-IGF2 HGNC NCBI

Linked Data

gnomAD v4: 11-2159729-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2159729G>A , CM000673.2:g.2159729G>A GRCh38
NC_000011.9:g.2180959G>A , CM000673.1:g.2180959G>A GRCh37
NC_000011.8:g.2137535G>A NCBI36
NG_007114.1:g.6466C>T
NG_050578.1:g.6481C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356578.8:c.187+1056C>T ENSP00000348986.4:n.187+1056C>T
ENST00000397270.1:c.187+1056C>T ENSP00000380440.1:n.187+1056C>T
NM_001042376.2:c.187+1056C>T NP_001035835.1:n.187+1056C>T
NR_003512.3:n.246+1056C>T
NM_001042376.3:c.187+1056C>T NP_001035835.1:n.187+1056C>T
NR_003512.4:n.246+1056C>T
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