Canonical Allele Identifier: CA5817950
Gene: IGF2 HGNC NCBI
INS-IGF2 HGNC NCBI
IGF2-AS HGNC NCBI
COSMIC:
COSM6352432 (not active)
MyVariant.info:
GRCh38 chr11:g.2146388A>G
GRCh37 chr11:g.2167618A>G
Revel Score:
ENST00000381363 0.013
gnomAD v2:
11:2167618 A / G
gnomAD v3:
11:2146388 A / G
gnomAD v4:
chr11-2146388-A-G
Joint Max Group AF 0.79576117 (AMR)
Genomes Max Group AF 0.73024208 (AMR)
Exomes Max Group AF 0.81992426 (AMR)
dbSNP:
1003484
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2146388A>G , CM000673.2:g.2146388A>G GRCh38
NC_000011.9:g.2167618A>G , CM000673.1:g.2167618A>G GRCh37
NC_000011.8:g.2124194A>G NCBI36
NG_008849.1:g.8216T>C
NG_050578.1:g.19822T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000481781.3:c.-7+1178T>C (IGF2) ENSP00000511998.1:n.-7+1178T>C
ENST00000643349.2:c.*46+1178T>C ENSP00000495715.1:n.*46+1178T>C
ENST00000695541.1:c.-7+1178T>C (IGF2) ENSP00000511997.1:n.-7+1178T>C
ENST00000643349.1:c.*46+1178T>C ENSP00000495715.1:n.*46+1178T>C
ENST00000356578.8:c.*46+1178T>C (INS-IGF2) ENSP00000348986.4:n.*46+1178T>C
NM_001007139.5:c.-7+1178T>C (IGF2) NP_001007140.2:n.-7+1178T>C
NR_003512.3:n.708+1178T>C (INS-IGF2)
NR_028043.2:n.580A>G (IGF2-AS)
NR_133657.1:n.469A>G (IGF2-AS)
NR_003512.4:n.708+1178T>C (INS-IGF2)
NM_001007139.6:c.-7+1178T>C (IGF2) NP_001007140.2:n.-7+1178T>C
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