Canonical Allele Identifier: CA472023233

Linked Data

dbSNP Id: rs537755284
gnomAD v2: 11-2167551-G-C
gnomAD v4: 11-2146321-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2146321G>C , CM000673.2:g.2146321G>C GRCh38
NC_000011.9:g.2167551G>C , CM000673.1:g.2167551G>C GRCh37
NC_000011.8:g.2124127G>C NCBI36
NG_008849.1:g.8283C>G
NG_050578.1:g.19889C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000481781.3:c.-7+1245C>G (IGF2) ENSP00000511998.1:n.-7+1245C>G
ENST00000643349.2:c.*46+1245C>G ENSP00000495715.1:n.*46+1245C>G
ENST00000695541.1:c.-7+1245C>G (IGF2) ENSP00000511997.1:n.-7+1245C>G
ENST00000643349.1:c.*46+1245C>G ENSP00000495715.1:n.*46+1245C>G
ENST00000356578.8:c.*46+1245C>G (INS-IGF2) ENSP00000348986.4:n.*46+1245C>G
NM_001007139.5:c.-7+1245C>G (IGF2) NP_001007140.2:n.-7+1245C>G
NR_003512.3:n.708+1245C>G (INS-IGF2)
NR_028043.2:n.513G>C (IGF2-AS)
NR_133657.1:n.437-35G>C (IGF2-AS)
NR_003512.4:n.708+1245C>G (INS-IGF2)
NM_001007139.6:c.-7+1245C>G (IGF2) NP_001007140.2:n.-7+1245C>G