Canonical Allele Identifier: CA1948016007
Community Standard Title: NC_000011.10:g.2147784A=

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2147784A= , CM000673.2:g.2147784A= GRCh38
NC_000011.9:g.2169014A= , CM000673.1:g.2169014A= GRCh37
NC_000011.8:g.2125590A= NCBI36
NG_008849.1:g.6820T=
NG_050578.1:g.18426T=

Transcript Alleles

HGVS Amino-acid Change
NM_001007139.5:c.-225T= (IGF2) NP_001007140.2:n.-225T=
NM_001007139.6:c.-225T= (IGF2) NP_001007140.2:n.-225T=
NM_001042376.2:c.431T= (INS-IGF2) NP_001035835.1:p.Leu144=
NM_001042376.3:c.431T= (INS-IGF2) NP_001035835.1:p.Leu144=
NR_003512.3:n.490T= (INS-IGF2)
NR_003512.4:n.490T= (INS-IGF2)
NR_028043.2:n.1186A= (IGF2-AS)
NR_133657.1:n.1075A= (IGF2-AS)
ENST00000356578.8:c.431T= (INS-IGF2) ENSP00000348986.4:p.Leu144=
ENST00000397270.1:c.431T= (INS-IGF2) ENSP00000380440.1:p.Leu144=
ENST00000481781.1:n.636T= (INS-IGF2)
ENST00000481781.2:n.369T=
ENST00000481781.3:c.-225T= (IGF2) ENSP00000511998.1:n.-225T=
ENST00000643349.1:c.278T= ENSP00000495715.1:p.Leu93=
ENST00000643349.2:c.278T= ENSP00000495715.1:p.Leu93=
ENST00000695541.1:c.-225T= (IGF2) ENSP00000511997.1:n.-225T=