Canonical Allele Identifier: CA2552237264
Gene: IGF2R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160076960_160076968del , CM000668.2:g.160076960_160076968del GRCh38
NC_000006.11:g.160497992_160498000del , CM000668.1:g.160497992_160498000del GRCh37
NC_000006.10:g.160417982_160417990del NCBI36
NG_011785.3:g.112862_112870del
NG_011785.4:g.112862_112870del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356956.6:c.5316+964_5316+972del MANE Select ENSP00000349437.1:n.5316+964_5316+972del
ENST00000650503.1:n.1926+964_1926+972del
ENST00000676781.1:c.*3424+964_*3424+972del ENSP00000504419.1:n.*3424+964_*3424+972del
ENST00000677704.1:c.*1187+964_*1187+972del ENSP00000503314.1:n.*1187+964_*1187+972del
ENST00000356956.5:c.5316+964_5316+972del ENSP00000349437.1:n.5316+964_5316+972del
NM_000876.2:c.5316+964_5316+972del NP_000867.2:n.5316+964_5316+972del
NM_000876.3:c.5316+964_5316+972del NP_000867.2:n.5316+964_5316+972del
NM_000876.4:c.5316+964_5316+972del MANE Select NP_000867.3:n.5316+964_5316+972del