Canonical Allele Identifier: CA4081517
Gene: IGF2R HGNC NCBI

Linked Data

dbSNP Id: rs142077419
ExAC: 6:160453992 A / G
gnomAD v2: 6-160453992-A-G
gnomAD v3: 6-160032960-A-G
gnomAD v4: 6-160032960-A-G
MyVariant Identifiers: chr6:g.160453992A>G (hg19) chr6:g.160032960A>G (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000356956.6:c.1064A>G MANE Select ENSP00000349437.1:p.Asp355Gly
ENST00000649737.1:n.301A>G
ENST00000676781.1:c.1064A>G ENSP00000504419.1:p.Asp355Gly
ENST00000677704.1:c.1064A>G ENSP00000503314.1:p.Asp355Gly
ENST00000356956.5:c.1064A>G ENSP00000349437.1:p.Asp355Gly
NM_000876.2:c.1064A>G NP_000867.2:p.Asp355Gly
XR_942419.1:n.1079A>G
NM_000876.3:c.1064A>G NP_000867.2:p.Asp355Gly
NM_000876.4:c.1064A>G MANE Select NP_000867.3:p.Asp355Gly
Search 100 bp 5'
Search 100 bp 3'