Canonical Allele Identifier: CA472028069

Linked Data

dbSNP Id: rs1191498258
gnomAD v3: 11-2148637-A-G
gnomAD v4: 11-2148637-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2148637A>G , CM000673.2:g.2148637A>G GRCh38
NC_000011.9:g.2169867A>G , CM000673.1:g.2169867A>G GRCh37
NC_000011.8:g.2126443A>G NCBI36
NG_008849.1:g.5967T>C
NG_050578.1:g.17573T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000481781.3:c.-249+489T>C (IGF2) ENSP00000511998.1:n.-249+489T>C
ENST00000643349.2:c.254+489T>C ENSP00000495715.1:n.254+489T>C
ENST00000695541.1:c.-249+489T>C (IGF2) ENSP00000511997.1:n.-249+489T>C
ENST00000481781.2:n.345+489T>C
ENST00000643349.1:c.254+489T>C ENSP00000495715.1:n.254+489T>C
ENST00000356578.8:c.407+489T>C (INS-IGF2) ENSP00000348986.4:n.407+489T>C
ENST00000397270.1:c.407+489T>C (INS-IGF2) ENSP00000380440.1:n.407+489T>C
ENST00000481781.1:n.612+489T>C (INS-IGF2)
NM_001007139.5:c.-249+489T>C (IGF2) NP_001007140.2:n.-249+489T>C
NM_001042376.2:c.407+489T>C (INS-IGF2) NP_001035835.1:n.407+489T>C
NR_003512.3:n.466+489T>C (INS-IGF2)
NR_028043.2:n.2039A>G (IGF2-AS)
NR_133657.1:n.1928A>G (IGF2-AS)
NM_001042376.3:c.407+489T>C (INS-IGF2) NP_001035835.1:n.407+489T>C
NR_003512.4:n.466+489T>C (INS-IGF2)
NM_001007139.6:c.-249+489T>C (IGF2) NP_001007140.2:n.-249+489T>C