Canonical Allele Identifier: CA5817731
Community Standard Title: NM_000612.6(IGF2):c.144C>T (p.Arg48=)
Gene: IGF2 HGNC NCBI
INS-IGF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2135380G>A , CM000673.2:g.2135380G>A GRCh38
NC_000011.9:g.2156610G>A , CM000673.1:g.2156610G>A GRCh37
NC_000011.8:g.2113186G>A NCBI36
NG_008849.1:g.19224C>T
NG_050578.1:g.30830C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000612.6:c.144C>T (IGF2) MANE Select NP_000603.1:p.Arg48=
ENST00000416167.7:c.144C>T (IGF2) MANE Select ENSP00000414497.2:p.Arg48=
NM_000612.5:c.144C>T (IGF2) NP_000603.1:p.Arg48=
NM_001007139.5:c.144C>T (IGF2) NP_001007140.2:p.Arg48=
NM_001007139.6:c.144C>T (IGF2) NP_001007140.2:p.Arg48=
NM_001127598.2:c.312C>T (IGF2) NP_001121070.1:p.Arg104=
NM_001127598.3:c.312C>T (IGF2) NP_001121070.1:p.Arg104=
NM_001291861.2:c.144C>T (IGF2) NP_001278790.1:p.Arg48=
NM_001291861.3:c.144C>T (IGF2) NP_001278790.1:p.Arg48=
NM_001291862.2:c.144C>T (IGF2) NP_001278791.1:p.Arg48=
NM_001291862.3:c.144C>T (IGF2) NP_001278791.1:p.Arg48=
NR_003512.3:n.858C>T (INS-IGF2)
NR_003512.4:n.858C>T (INS-IGF2)
ENST00000356578.8:c.*196C>T (INS-IGF2) ENSP00000348986.4:n.*196C>T
ENST00000381389.5:c.144C>T (IGF2) ENSP00000370796.1:p.Arg48=
ENST00000381392.5:c.144C>T (IGF2) ENSP00000370799.1:p.Arg48=
ENST00000381395.5:c.144C>T (IGF2) ENSP00000370802.1:p.Arg48=
ENST00000381406.8:c.144C>T (IGF2) ENSP00000370813.4:p.Arg48=
ENST00000416167.6:c.144C>T (IGF2) ENSP00000414497.2:p.Arg48=
ENST00000418738.2:c.144C>T (IGF2) ENSP00000402047.2:p.Arg48=
ENST00000434045.6:c.312C>T (IGF2) ENSP00000391826.2:p.Arg104=
ENST00000481781.3:c.144C>T (IGF2) ENSP00000511998.1:p.Arg48=
ENST00000643349.1:c.*196C>T ENSP00000495715.1:n.*196C>T
ENST00000643349.2:c.*196C>T ENSP00000495715.1:n.*196C>T
ENST00000695541.1:c.144C>T (IGF2) ENSP00000511997.1:p.Arg48=