Canonical Allele Identifier: CA472028078

Linked Data

gnomAD v4: 11-2148640-T-G
MyVariant Identifiers: chr11:g.2169870T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2148640T>G , CM000673.2:g.2148640T>G GRCh38
NC_000011.9:g.2169870T>G , CM000673.1:g.2169870T>G GRCh37
NC_000011.8:g.2126446T>G NCBI36
NG_008849.1:g.5964A>C
NG_050578.1:g.17570A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000481781.3:c.-249+486A>C (IGF2) ENSP00000511998.1:n.-249+486A>C
ENST00000643349.2:c.254+486A>C ENSP00000495715.1:n.254+486A>C
ENST00000695541.1:c.-249+486A>C (IGF2) ENSP00000511997.1:n.-249+486A>C
ENST00000481781.2:n.345+486A>C
ENST00000643349.1:c.254+486A>C ENSP00000495715.1:n.254+486A>C
ENST00000356578.8:c.407+486A>C (INS-IGF2) ENSP00000348986.4:n.407+486A>C
ENST00000397270.1:c.407+486A>C (INS-IGF2) ENSP00000380440.1:n.407+486A>C
ENST00000481781.1:n.612+486A>C (INS-IGF2)
NM_001007139.5:c.-249+486A>C (IGF2) NP_001007140.2:n.-249+486A>C
NM_001042376.2:c.407+486A>C (INS-IGF2) NP_001035835.1:n.407+486A>C
NR_003512.3:n.466+486A>C (INS-IGF2)
NR_028043.2:n.2042T>G (IGF2-AS)
NR_133657.1:n.1931T>G (IGF2-AS)
NM_001042376.3:c.407+486A>C (INS-IGF2) NP_001035835.1:n.407+486A>C
NR_003512.4:n.466+486A>C (INS-IGF2)
NM_001007139.6:c.-249+486A>C (IGF2) NP_001007140.2:n.-249+486A>C