Canonical Allele Identifier: CA2605745187
Gene: IGF2R HGNC NCBI

Linked Data

gnomAD v3: 6-160009700-G-A
gnomAD v4: 6-160009700-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160009700G>A , CM000668.2:g.160009700G>A GRCh38
NC_000006.11:g.160430732G>A , CM000668.1:g.160430732G>A GRCh37
NC_000006.10:g.160350722G>A NCBI36
NG_011785.3:g.45602G>A
NG_011785.4:g.45602G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356956.6:c.414+566G>A MANE Select ENSP00000349437.1:n.414+566G>A
ENST00000676781.1:c.414+566G>A ENSP00000504419.1:n.414+566G>A
ENST00000677704.1:c.414+566G>A ENSP00000503314.1:n.414+566G>A
ENST00000356956.5:c.414+566G>A ENSP00000349437.1:n.414+566G>A
NM_000876.2:c.414+566G>A NP_000867.2:n.414+566G>A
XR_942419.1:n.429+566G>A
NM_000876.3:c.414+566G>A NP_000867.2:n.414+566G>A
NM_000876.4:c.414+566G>A MANE Select NP_000867.3:n.414+566G>A
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