Canonical Allele Identifier: CA2611960778
Gene: INS-IGF2 HGNC NCBI

Linked Data

gnomAD v4: 11-2159752-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2159752C>G , CM000673.2:g.2159752C>G GRCh38
NC_000011.9:g.2180982C>G , CM000673.1:g.2180982C>G GRCh37
NC_000011.8:g.2137558C>G NCBI36
NG_007114.1:g.6443G>C
NG_050578.1:g.6458G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356578.8:c.187+1033G>C ENSP00000348986.4:n.187+1033G>C
ENST00000397270.1:c.187+1033G>C ENSP00000380440.1:n.187+1033G>C
NM_001042376.2:c.187+1033G>C NP_001035835.1:n.187+1033G>C
NR_003512.3:n.246+1033G>C
NM_001042376.3:c.187+1033G>C NP_001035835.1:n.187+1033G>C
NR_003512.4:n.246+1033G>C