Canonical Allele Identifier: CA472027947

Linked Data

gnomAD v4: 11-2148599-G-T
MyVariant Identifiers: chr11:g.2169829G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2148599G>T , CM000673.2:g.2148599G>T GRCh38
NC_000011.9:g.2169829G>T , CM000673.1:g.2169829G>T GRCh37
NC_000011.8:g.2126405G>T NCBI36
NG_008849.1:g.6005C>A
NG_050578.1:g.17611C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000481781.3:c.-249+527C>A (IGF2) ENSP00000511998.1:n.-249+527C>A
ENST00000643349.2:c.254+527C>A ENSP00000495715.1:n.254+527C>A
ENST00000695541.1:c.-249+527C>A (IGF2) ENSP00000511997.1:n.-249+527C>A
ENST00000481781.2:n.345+527C>A
ENST00000643349.1:c.254+527C>A ENSP00000495715.1:n.254+527C>A
ENST00000356578.8:c.407+527C>A (INS-IGF2) ENSP00000348986.4:n.407+527C>A
ENST00000397270.1:c.407+527C>A (INS-IGF2) ENSP00000380440.1:n.407+527C>A
ENST00000481781.1:n.612+527C>A (INS-IGF2)
NM_001007139.5:c.-249+527C>A (IGF2) NP_001007140.2:n.-249+527C>A
NM_001042376.2:c.407+527C>A (INS-IGF2) NP_001035835.1:n.407+527C>A
NR_003512.3:n.466+527C>A (INS-IGF2)
NR_028043.2:n.2001G>T (IGF2-AS)
NR_133657.1:n.1890G>T (IGF2-AS)
NM_001042376.3:c.407+527C>A (INS-IGF2) NP_001035835.1:n.407+527C>A
NR_003512.4:n.466+527C>A (INS-IGF2)
NM_001007139.6:c.-249+527C>A (IGF2) NP_001007140.2:n.-249+527C>A