Canonical Allele Identifier: CA15693077
Gene: INS-IGF2 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.2159615G>A
GRCh37 chr11:g.2180845G>A
gnomAD v2:
11:2180845 G / A
gnomAD v3:
11:2159615 G / A
gnomAD v4:
chr11-2159615-G-A
Joint Max Group AF 0.21482201 (NFE)
Genomes Max Group AF 0.21482201 (NFE)
ClinVar RCV:
RCV001675080
ClinVar Variation:
1265784
dbSNP:
3842754
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2159615G>A , CM000673.2:g.2159615G>A GRCh38
NC_000011.9:g.2180845G>A , CM000673.1:g.2180845G>A GRCh37
NC_000011.8:g.2137421G>A NCBI36
NG_007114.1:g.6580C>T
NG_050578.1:g.6595C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356578.8:c.187+1170C>T ENSP00000348986.4:n.187+1170C>T
ENST00000397270.1:c.187+1170C>T ENSP00000380440.1:n.187+1170C>T
NM_001042376.2:c.187+1170C>T NP_001035835.1:n.187+1170C>T
NR_003512.3:n.246+1170C>T
NM_001042376.3:c.187+1170C>T NP_001035835.1:n.187+1170C>T
NR_003512.4:n.246+1170C>T
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