Canonical Allele Identifier: CA5817886

Linked Data

dbSNP Id: rs779236163
gnomAD v2: 11-2167466-C-T
gnomAD v4: 11-2146236-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2146236C>T , CM000673.2:g.2146236C>T GRCh38
NC_000011.9:g.2167466C>T , CM000673.1:g.2167466C>T GRCh37
NC_000011.8:g.2124042C>T NCBI36
NG_008849.1:g.8368G>A
NG_050578.1:g.19974G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000481781.3:c.-7+1330G>A (IGF2) ENSP00000511998.1:n.-7+1330G>A
ENST00000643349.2:c.*46+1330G>A ENSP00000495715.1:n.*46+1330G>A
ENST00000695541.1:c.-7+1330G>A (IGF2) ENSP00000511997.1:n.-7+1330G>A
ENST00000643349.1:c.*46+1330G>A ENSP00000495715.1:n.*46+1330G>A
ENST00000356578.8:c.*46+1330G>A (INS-IGF2) ENSP00000348986.4:n.*46+1330G>A
NM_001007139.5:c.-7+1330G>A (IGF2) NP_001007140.2:n.-7+1330G>A
NR_003512.3:n.708+1330G>A (INS-IGF2)
NR_028043.2:n.437-9C>T (IGF2-AS)
NR_133657.1:n.437-120C>T (IGF2-AS)
NR_003512.4:n.708+1330G>A (INS-IGF2)
NM_001007139.6:c.-7+1330G>A (IGF2) NP_001007140.2:n.-7+1330G>A