Canonical Allele Identifier: CA5817914

Linked Data

dbSNP Id: rs1003483
gnomAD v2: 11-2167543-T-G
gnomAD v3: 11-2146313-T-G
gnomAD v4: 11-2146313-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2146313T>G , CM000673.2:g.2146313T>G GRCh38
NC_000011.9:g.2167543T>G , CM000673.1:g.2167543T>G GRCh37
NC_000011.8:g.2124119T>G NCBI36
NG_008849.1:g.8291A>C
NG_050578.1:g.19897A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000481781.3:c.-7+1253A>C (IGF2) ENSP00000511998.1:n.-7+1253A>C
ENST00000643349.2:c.*46+1253A>C ENSP00000495715.1:n.*46+1253A>C
ENST00000695541.1:c.-7+1253A>C (IGF2) ENSP00000511997.1:n.-7+1253A>C
ENST00000643349.1:c.*46+1253A>C ENSP00000495715.1:n.*46+1253A>C
ENST00000356578.8:c.*46+1253A>C (INS-IGF2) ENSP00000348986.4:n.*46+1253A>C
NM_001007139.5:c.-7+1253A>C (IGF2) NP_001007140.2:n.-7+1253A>C
NR_003512.3:n.708+1253A>C (INS-IGF2)
NR_028043.2:n.505T>G (IGF2-AS)
NR_133657.1:n.437-43T>G (IGF2-AS)
NR_003512.4:n.708+1253A>C (INS-IGF2)
NM_001007139.6:c.-7+1253A>C (IGF2) NP_001007140.2:n.-7+1253A>C