Canonical Allele Identifier: CA5817950

Identifiers and link-outs to other resources

dbSNP Id: rs1003484

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2146388A>G , CM000673.2:g.2146388A>G GRCh38
NC_000011.9:g.2167618A>G , CM000673.1:g.2167618A>G GRCh37
NC_000011.8:g.2124194A>G NCBI36
NG_008849.1:g.8216T>C
NG_050578.1:g.19822T>C

Transcript Alleles

HGVS Amino-acid change
NM_001007139.5:c.-7+1178T>C (IGF2) VV NP_001007140.2:p.=
NR_003512.3:n.708+1178T>C (INS-IGF2)
NR_028043.2:n.580A>G (IGF2-AS)
NR_133657.1:n.469A>G (IGF2-AS)
ENST00000356578.8:c.*46+1178T>C ENSP00000348986.4:p.=