Canonical Allele Identifier: CA5817916

Linked Data

dbSNP Id: rs566923087
gnomAD v2: 11-2167550-A-G
gnomAD v3: 11-2146320-A-G
gnomAD v4: 11-2146320-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2146320A>G , CM000673.2:g.2146320A>G GRCh38
NC_000011.9:g.2167550A>G , CM000673.1:g.2167550A>G GRCh37
NC_000011.8:g.2124126A>G NCBI36
NG_008849.1:g.8284T>C
NG_050578.1:g.19890T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000481781.3:c.-7+1246T>C (IGF2) ENSP00000511998.1:n.-7+1246T>C
ENST00000643349.2:c.*46+1246T>C ENSP00000495715.1:n.*46+1246T>C
ENST00000695541.1:c.-7+1246T>C (IGF2) ENSP00000511997.1:n.-7+1246T>C
ENST00000643349.1:c.*46+1246T>C ENSP00000495715.1:n.*46+1246T>C
ENST00000356578.8:c.*46+1246T>C (INS-IGF2) ENSP00000348986.4:n.*46+1246T>C
NM_001007139.5:c.-7+1246T>C (IGF2) NP_001007140.2:n.-7+1246T>C
NR_003512.3:n.708+1246T>C (INS-IGF2)
NR_028043.2:n.512A>G (IGF2-AS)
NR_133657.1:n.437-36A>G (IGF2-AS)
NR_003512.4:n.708+1246T>C (INS-IGF2)
NM_001007139.6:c.-7+1246T>C (IGF2) NP_001007140.2:n.-7+1246T>C