Canonical Allele Identifier: CA4081828
Gene: IGF2R HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.160047246A>G
GRCh37 chr6:g.160468278A>G
gnomAD v2:
6:160468278 A / G
gnomAD v3:
6:160047246 A / G
gnomAD v4:
chr6-160047246-A-G
Joint Max Group AF 0.66390202 (EAS)
Genomes Max Group AF 0.65196995 (EAS)
Exomes Max Group AF 0.6634572 (EAS)
dbSNP:
998075
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160047246A>G , CM000668.2:g.160047246A>G GRCh38
NC_000006.11:g.160468278A>G , CM000668.1:g.160468278A>G GRCh37
NC_000006.10:g.160388268A>G NCBI36
NG_011785.3:g.83148A>G
NG_011785.4:g.83148A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356956.6:c.2139A>G MANE Select ENSP00000349437.1:p.Thr713=
ENST00000676781.1:c.*247A>G ENSP00000504419.1:n.*247A>G
ENST00000677704.1:c.2139A>G ENSP00000503314.1:p.Thr713=
ENST00000356956.5:c.2139A>G ENSP00000349437.1:p.Thr713=
NM_000876.2:c.2139A>G NP_000867.2:p.Thr713=
XR_942419.1:n.2154A>G
NM_000876.3:c.2139A>G NP_000867.2:p.Thr713=
NM_000876.4:c.2139A>G MANE Select NP_000867.3:p.Thr713=
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Search 100 bp 3'