Canonical Allele Identifier: CA5817917
Gene: IGF2 HGNC NCBI
INS-IGF2 HGNC NCBI
IGF2-AS HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.2146321G>A
GRCh37 chr11:g.2167551G>A
gnomAD v2:
11:2167551 G / A
gnomAD v3:
11:2146321 G / A
gnomAD v4:
chr11-2146321-G-A
Joint Max Group AF 0.00025342 (AFR)
Genomes Max Group AF 0.00022156 (AFR)
Exomes Max Group AF 0.00018574 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2146321G>A , CM000673.2:g.2146321G>A GRCh38
NC_000011.9:g.2167551G>A , CM000673.1:g.2167551G>A GRCh37
NC_000011.8:g.2124127G>A NCBI36
NG_008849.1:g.8283C>T
NG_050578.1:g.19889C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000481781.3:c.-7+1245C>T (IGF2) ENSP00000511998.1:n.-7+1245C>T
ENST00000643349.2:c.*46+1245C>T ENSP00000495715.1:n.*46+1245C>T
ENST00000695541.1:c.-7+1245C>T (IGF2) ENSP00000511997.1:n.-7+1245C>T
ENST00000643349.1:c.*46+1245C>T ENSP00000495715.1:n.*46+1245C>T
ENST00000356578.8:c.*46+1245C>T (INS-IGF2) ENSP00000348986.4:n.*46+1245C>T
NM_001007139.5:c.-7+1245C>T (IGF2) NP_001007140.2:n.-7+1245C>T
NR_003512.3:n.708+1245C>T (INS-IGF2)
NR_028043.2:n.513G>A (IGF2-AS)
NR_133657.1:n.437-35G>A (IGF2-AS)
NR_003512.4:n.708+1245C>T (INS-IGF2)
NM_001007139.6:c.-7+1245C>T (IGF2) NP_001007140.2:n.-7+1245C>T
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