Canonical Allele Identifier: CA674543874

Linked Data

dbSNP Id: rs115913655
gnomAD v3: 11-2146170-C-A
gnomAD v4: 11-2146170-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2146170C>A , CM000673.2:g.2146170C>A GRCh38
NC_000011.9:g.2167400C>A , CM000673.1:g.2167400C>A GRCh37
NC_000011.8:g.2123976C>A NCBI36
NG_008849.1:g.8434G>T
NG_050578.1:g.20040G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000481781.3:c.-7+1396G>T (IGF2) ENSP00000511998.1:n.-7+1396G>T
ENST00000643349.2:c.*46+1396G>T ENSP00000495715.1:n.*46+1396G>T
ENST00000695541.1:c.-7+1396G>T (IGF2) ENSP00000511997.1:n.-7+1396G>T
ENST00000643349.1:c.*46+1396G>T ENSP00000495715.1:n.*46+1396G>T
ENST00000356578.8:c.*46+1396G>T (INS-IGF2) ENSP00000348986.4:n.*46+1396G>T
NM_001007139.5:c.-7+1396G>T (IGF2) NP_001007140.2:n.-7+1396G>T
NR_003512.3:n.708+1396G>T (INS-IGF2)
NR_028043.2:n.437-75C>A (IGF2-AS)
NR_133657.1:n.437-186C>A (IGF2-AS)
NR_003512.4:n.708+1396G>T (INS-IGF2)
NM_001007139.6:c.-7+1396G>T (IGF2) NP_001007140.2:n.-7+1396G>T