Canonical Allele Identifier: CA13555419
Gene: IGF2 HGNC NCBI
INS-IGF2 HGNC NCBI
IGF2-AS HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.2147880A>G
GRCh37 chr11:g.2169110A>G
gnomAD v2:
11:2169110 A / G
gnomAD v3:
11:2147880 A / G
gnomAD v4:
chr11-2147880-A-G
Joint Max Group AF 0.3904739 (AFR)
Genomes Max Group AF 0.38975718 (AFR)
Exomes Max Group AF 0.38707037 (AFR)
dbSNP:
3741211
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2147880A>G , CM000673.2:g.2147880A>G GRCh38
NC_000011.9:g.2169110A>G , CM000673.1:g.2169110A>G GRCh37
NC_000011.8:g.2125686A>G NCBI36
NG_008849.1:g.6724T>C
NG_050578.1:g.18330T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000481781.3:c.-248-73T>C (IGF2) ENSP00000511998.1:n.-248-73T>C
ENST00000643349.2:c.255-73T>C ENSP00000495715.1:n.255-73T>C
ENST00000695541.1:c.-248-73T>C (IGF2) ENSP00000511997.1:n.-248-73T>C
ENST00000481781.2:n.346-73T>C
ENST00000643349.1:c.255-73T>C ENSP00000495715.1:n.255-73T>C
ENST00000356578.8:c.408-73T>C (INS-IGF2) ENSP00000348986.4:n.408-73T>C
ENST00000397270.1:c.408-73T>C (INS-IGF2) ENSP00000380440.1:n.408-73T>C
ENST00000481781.1:n.613-73T>C (INS-IGF2)
NM_001007139.5:c.-248-73T>C (IGF2) NP_001007140.2:n.-248-73T>C
NM_001042376.2:c.408-73T>C (INS-IGF2) NP_001035835.1:n.408-73T>C
NR_003512.3:n.467-73T>C (INS-IGF2)
NR_028043.2:n.1282A>G (IGF2-AS)
NR_133657.1:n.1171A>G (IGF2-AS)
NM_001042376.3:c.408-73T>C (INS-IGF2) NP_001035835.1:n.408-73T>C
NR_003512.4:n.467-73T>C (INS-IGF2)
NM_001007139.6:c.-248-73T>C (IGF2) NP_001007140.2:n.-248-73T>C
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