Canonical Allele Identifier: CA366319612
Gene: IGF2R HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160032960A>C , CM000668.2:g.160032960A>C GRCh38
NC_000006.11:g.160453992A>C , CM000668.1:g.160453992A>C GRCh37
NC_000006.10:g.160373982A>C NCBI36
NG_011785.3:g.68862A>C
NG_011785.4:g.68862A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000356956.6:c.1064A>C MANE Select ENSP00000349437.1:p.Asp355Ala
ENST00000649737.1:n.301A>C
ENST00000676781.1:c.1064A>C ENSP00000504419.1:p.Asp355Ala
ENST00000677704.1:c.1064A>C ENSP00000503314.1:p.Asp355Ala
ENST00000356956.5:c.1064A>C ENSP00000349437.1:p.Asp355Ala
NM_000876.2:c.1064A>C NP_000867.2:p.Asp355Ala
XR_942419.1:n.1079A>C
NM_000876.3:c.1064A>C NP_000867.2:p.Asp355Ala
NM_000876.4:c.1064A>C MANE Select NP_000867.3:p.Asp355Ala