Canonical Allele Identifier: CA15677288
Gene: IGF2 HGNC NCBI
INS-IGF2 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.2132404T>C
GRCh37 chr11:g.2153634T>C
gnomAD v2:
11:2153634 T / C
gnomAD v3:
11:2132404 T / C
gnomAD v4:
chr11-2132404-T-C
Joint Max Group AF 0.91729421 (AFR)
Genomes Max Group AF 0.91737745 (AFR)
Exomes Max Group AF 0.87775211 (AFR)
dbSNP:
680
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2132404T>C , CM000673.2:g.2132404T>C GRCh38
NC_000011.9:g.2153634T>C , CM000673.1:g.2153634T>C GRCh37
NC_000011.8:g.2110210T>C NCBI36
NG_008849.1:g.22200A>G
NG_050578.1:g.33806A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000643349.2:c.*1178A>G ENSP00000495715.1:n.*1178A>G
ENST00000695541.1:c.*583A>G (IGF2) ENSP00000511997.1:n.*583A>G
ENST00000416167.7:c.*583A>G (IGF2) MANE Select ENSP00000414497.2:n.*583A>G
ENST00000643349.1:c.*1178A>G ENSP00000495715.1:n.*1178A>G
ENST00000381395.5:c.*583A>G (IGF2) ENSP00000370802.1:n.*583A>G
ENST00000381406.8:c.*583A>G (IGF2) ENSP00000370813.4:n.*583A>G
ENST00000416167.6:c.*583A>G (IGF2) ENSP00000414497.2:n.*583A>G
NM_000612.5:c.*583A>G (IGF2) NP_000603.1:n.*583A>G
NM_001007139.5:c.*583A>G (IGF2) NP_001007140.2:n.*583A>G
NM_001127598.2:c.*583A>G (IGF2) NP_001121070.1:n.*583A>G
NM_001291861.2:c.*583A>G (IGF2) NP_001278790.1:n.*583A>G
NM_001291862.2:c.*583A>G (IGF2) NP_001278791.1:n.*583A>G
NR_003512.3:n.1840A>G (INS-IGF2)
NM_000612.6:c.*583A>G (IGF2) MANE Select NP_000603.1:n.*583A>G
NM_001127598.3:c.*583A>G (IGF2) NP_001121070.1:n.*583A>G
NM_001291861.3:c.*583A>G (IGF2) NP_001278790.1:n.*583A>G
NM_001291862.3:c.*583A>G (IGF2) NP_001278791.1:n.*583A>G
NR_003512.4:n.1840A>G (INS-IGF2)
NM_001007139.6:c.*583A>G (IGF2) NP_001007140.2:n.*583A>G
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