Canonical Allele Identifier: CA2556369190
Gene: IGF2 HGNC NCBI
INS-IGF2 HGNC NCBI

Linked Data

gnomAD v4: 11-2148869-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2148869T>C , CM000673.2:g.2148869T>C GRCh38
NC_000011.9:g.2170099T>C , CM000673.1:g.2170099T>C GRCh37
NC_000011.8:g.2126675T>C NCBI36
NG_008849.1:g.5735A>G
NG_050578.1:g.17341A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000481781.3:c.-249+257A>G (IGF2) ENSP00000511998.1:n.-249+257A>G
ENST00000643349.2:c.254+257A>G ENSP00000495715.1:n.254+257A>G
ENST00000695541.1:c.-249+257A>G (IGF2) ENSP00000511997.1:n.-249+257A>G
ENST00000481781.2:n.345+257A>G
ENST00000643349.1:c.254+257A>G ENSP00000495715.1:n.254+257A>G
ENST00000356578.8:c.407+257A>G (INS-IGF2) ENSP00000348986.4:n.407+257A>G
ENST00000397270.1:c.407+257A>G (INS-IGF2) ENSP00000380440.1:n.407+257A>G
ENST00000481781.1:n.612+257A>G (INS-IGF2)
NM_001007139.5:c.-249+257A>G (IGF2) NP_001007140.2:n.-249+257A>G
NM_001042376.2:c.407+257A>G (INS-IGF2) NP_001035835.1:n.407+257A>G
NR_003512.3:n.466+257A>G (INS-IGF2)
NM_001042376.3:c.407+257A>G (INS-IGF2) NP_001035835.1:n.407+257A>G
NR_003512.4:n.466+257A>G (INS-IGF2)
NM_001007139.6:c.-249+257A>G (IGF2) NP_001007140.2:n.-249+257A>G