Canonical Allele Identifier: CA5817882
Gene: IGF2 HGNC NCBI
INS-IGF2 HGNC NCBI
IGF2-AS HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.2146225C>T
GRCh37 chr11:g.2167455C>T
gnomAD v2:
11:2167455 C / T
gnomAD v3:
11:2146225 C / T
gnomAD v4:
chr11-2146225-C-T
Joint Max Group AF 0.00000459 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00000173 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2146225C>T , CM000673.2:g.2146225C>T GRCh38
NC_000011.9:g.2167455C>T , CM000673.1:g.2167455C>T GRCh37
NC_000011.8:g.2124031C>T NCBI36
NG_008849.1:g.8379G>A
NG_050578.1:g.19985G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000481781.3:c.-7+1341G>A (IGF2) ENSP00000511998.1:n.-7+1341G>A
ENST00000643349.2:c.*46+1341G>A ENSP00000495715.1:n.*46+1341G>A
ENST00000695541.1:c.-7+1341G>A (IGF2) ENSP00000511997.1:n.-7+1341G>A
ENST00000643349.1:c.*46+1341G>A ENSP00000495715.1:n.*46+1341G>A
ENST00000356578.8:c.*46+1341G>A (INS-IGF2) ENSP00000348986.4:n.*46+1341G>A
NM_001007139.5:c.-7+1341G>A (IGF2) NP_001007140.2:n.-7+1341G>A
NR_003512.3:n.708+1341G>A (INS-IGF2)
NR_028043.2:n.437-20C>T (IGF2-AS)
NR_133657.1:n.437-131C>T (IGF2-AS)
NR_003512.4:n.708+1341G>A (INS-IGF2)
NM_001007139.6:c.-7+1341G>A (IGF2) NP_001007140.2:n.-7+1341G>A
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