Canonical Allele Identifier: CA472023244

Linked Data

dbSNP Id: rs1370393098
gnomAD v4: 11-2146324-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2146324T>C , CM000673.2:g.2146324T>C GRCh38
NC_000011.9:g.2167554T>C , CM000673.1:g.2167554T>C GRCh37
NC_000011.8:g.2124130T>C NCBI36
NG_008849.1:g.8280A>G
NG_050578.1:g.19886A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000481781.3:c.-7+1242A>G (IGF2) ENSP00000511998.1:n.-7+1242A>G
ENST00000643349.2:c.*46+1242A>G ENSP00000495715.1:n.*46+1242A>G
ENST00000695541.1:c.-7+1242A>G (IGF2) ENSP00000511997.1:n.-7+1242A>G
ENST00000643349.1:c.*46+1242A>G ENSP00000495715.1:n.*46+1242A>G
ENST00000356578.8:c.*46+1242A>G (INS-IGF2) ENSP00000348986.4:n.*46+1242A>G
NM_001007139.5:c.-7+1242A>G (IGF2) NP_001007140.2:n.-7+1242A>G
NR_003512.3:n.708+1242A>G (INS-IGF2)
NR_028043.2:n.516T>C (IGF2-AS)
NR_133657.1:n.437-32T>C (IGF2-AS)
NR_003512.4:n.708+1242A>G (INS-IGF2)
NM_001007139.6:c.-7+1242A>G (IGF2) NP_001007140.2:n.-7+1242A>G