Canonical Allele Identifier: CA1096508367
Gene: IGF2R HGNC NCBI

Linked Data

dbSNP Id: rs1784302857
gnomAD v3: 6-160009625-A-AT
gnomAD v4: 6-160009625-A-AT
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160009627dup , CM000668.2:g.160009627dup GRCh38
NC_000006.11:g.160430659dup , CM000668.1:g.160430659dup GRCh37
NC_000006.10:g.160350649dup NCBI36
NG_011785.3:g.45529dup
NG_011785.4:g.45529dup

Transcript Alleles

HGVS Amino-acid change
ENST00000356956.6:c.414+493dup MANE Select ENSP00000349437.1:n.414+493dup
ENST00000676781.1:c.414+493dup ENSP00000504419.1:n.414+493dup
ENST00000677704.1:c.414+493dup ENSP00000503314.1:n.414+493dup
ENST00000356956.5:c.414+493dup ENSP00000349437.1:n.414+493dup
NM_000876.2:c.414+493dup NP_000867.2:n.414+493dup
XR_942419.1:n.429+493dup
NM_000876.3:c.414+493dup NP_000867.2:n.414+493dup
NM_000876.4:c.414+493dup MANE Select NP_000867.3:n.414+493dup
Search 100 bp 5'
Search 100 bp 3'