Canonical Allele Identifier: CA2578787382
Gene: IGF2R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160032782T>A , CM000668.2:g.160032782T>A GRCh38
NC_000006.11:g.160453814T>A , CM000668.1:g.160453814T>A GRCh37
NC_000006.10:g.160373804T>A NCBI36
NG_011785.3:g.68684T>A
NG_011785.4:g.68684T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000356956.6:c.1045+69T>A MANE Select ENSP00000349437.1:n.1045+69T>A
ENST00000649737.1:n.282+69T>A
ENST00000676781.1:c.1045+69T>A ENSP00000504419.1:n.1045+69T>A
ENST00000677704.1:c.1045+69T>A ENSP00000503314.1:n.1045+69T>A
ENST00000356956.5:c.1045+69T>A ENSP00000349437.1:n.1045+69T>A
NM_000876.2:c.1045+69T>A NP_000867.2:n.1045+69T>A
XR_942419.1:n.1060+69T>A
NM_000876.3:c.1045+69T>A NP_000867.2:n.1045+69T>A
NM_000876.4:c.1045+69T>A MANE Select NP_000867.3:n.1045+69T>A