Canonical Allele Identifier: CA472027970

Linked Data

gnomAD v4: 11-2148606-G-C
MyVariant Identifiers: chr11:g.2169836G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2148606G>C , CM000673.2:g.2148606G>C GRCh38
NC_000011.9:g.2169836G>C , CM000673.1:g.2169836G>C GRCh37
NC_000011.8:g.2126412G>C NCBI36
NG_008849.1:g.5998C>G
NG_050578.1:g.17604C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000481781.3:c.-249+520C>G (IGF2) ENSP00000511998.1:n.-249+520C>G
ENST00000643349.2:c.254+520C>G ENSP00000495715.1:n.254+520C>G
ENST00000695541.1:c.-249+520C>G (IGF2) ENSP00000511997.1:n.-249+520C>G
ENST00000481781.2:n.345+520C>G
ENST00000643349.1:c.254+520C>G ENSP00000495715.1:n.254+520C>G
ENST00000356578.8:c.407+520C>G (INS-IGF2) ENSP00000348986.4:n.407+520C>G
ENST00000397270.1:c.407+520C>G (INS-IGF2) ENSP00000380440.1:n.407+520C>G
ENST00000481781.1:n.612+520C>G (INS-IGF2)
NM_001007139.5:c.-249+520C>G (IGF2) NP_001007140.2:n.-249+520C>G
NM_001042376.2:c.407+520C>G (INS-IGF2) NP_001035835.1:n.407+520C>G
NR_003512.3:n.466+520C>G (INS-IGF2)
NR_028043.2:n.2008G>C (IGF2-AS)
NR_133657.1:n.1897G>C (IGF2-AS)
NM_001042376.3:c.407+520C>G (INS-IGF2) NP_001035835.1:n.407+520C>G
NR_003512.4:n.466+520C>G (INS-IGF2)
NM_001007139.6:c.-249+520C>G (IGF2) NP_001007140.2:n.-249+520C>G