Canonical Allele Identifier: CA14450154
Gene: IGF2BP1 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.49055457T>C
GRCh37 chr17:g.47132819T>C
gnomAD v2:
17:47132819 T / C
gnomAD v3:
17:49055457 T / C
gnomAD v4:
chr17-49055457-T-C
Joint Max Group AF 0.67986018 (AFR)
Genomes Max Group AF 0.68197518 (AFR)
Exomes Max Group AF 0.65099165 (AFR)
ClinVar RCV:
RCV001667633
ClinVar Variation:
1264098
dbSNP:
6504593
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.49055457T>C , CM000679.2:g.49055457T>C GRCh38
NC_000017.10:g.47132819T>C , CM000679.1:g.47132819T>C GRCh37
NC_000017.9:g.44487818T>C NCBI36
NG_030585.1:g.63046T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000290341.8:c.*6013T>C MANE Select ENSP00000290341.3:n.*6013T>C
ENST00000290341.7:c.*6013T>C ENSP00000290341.3:n.*6013T>C
NM_001160423.1:c.*6013T>C NP_001153895.1:n.*6013T>C
NM_006546.3:c.*6013T>C NP_006537.3:n.*6013T>C
XM_005256955.2:c.*6013T>C XP_005257012.2:n.*6013T>C
XM_011524201.1:c.*6013T>C XP_011522503.1:n.*6013T>C
XM_005256955.3:c.*6013T>C XP_005257012.2:n.*6013T>C
XM_011524201.2:c.*6013T>C XP_011522503.1:n.*6013T>C
XM_017024022.1:c.*6013T>C XP_016879511.1:n.*6013T>C
NM_006546.4:c.*6013T>C MANE Select NP_006537.3:n.*6013T>C
NM_001160423.2:c.*6013T>C NP_001153895.1:n.*6013T>C
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