Canonical Allele Identifier: CA15332058
Gene: UGT2B7 HGNC NCBI
UGT2B11 HGNC NCBI
COSMIC:
COSN20404951 (not active)
COSN20476637 (not active)
MyVariant.info:
GRCh38 chr4:g.69096360T>C
GRCh37 chr4:g.69962078T>C
gnomAD v2:
4:69962078 T / C
gnomAD v3:
4:69096360 T / C
gnomAD v4:
chr4-69096360-T-C
Joint Max Group AF 0.70766926 (AFR)
Genomes Max Group AF 0.70603363 (AFR)
Exomes Max Group AF 0.70446715 (AFR)
ClinVar RCV:
RCV001028172
ClinVar Variation:
828262
dbSNP:
7668258
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.69096360T>C , CM000666.2:g.69096360T>C GRCh38
NC_000004.11:g.69962078T>C , CM000666.1:g.69962078T>C GRCh37
NC_000004.10:g.69996667T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000502942.5:c.-26-2180T>C (UGT2B7) ENSP00000426206.1:n.-26-2180T>C
ENST00000509763.1:n.260-2180T>C (UGT2B7)
ENST00000615638.4:c.*106-91607A>G (UGT2B11) ENSP00000477842.1:n.*106-91607A>G
ENST00000620779.4:c.*380-91607A>G (UGT2B11) ENSP00000478182.1:n.*380-91607A>G
XM_005265702.2:c.-26-2180T>C (UGT2B7) XP_005265759.1:n.-26-2180T>C
XM_011532231.1:c.-26-2180T>C (UGT2B7) XP_011530533.1:n.-26-2180T>C
NM_001349568.1:c.-26-2180T>C (UGT2B7) NP_001336497.1:n.-26-2180T>C
NM_001349568.2:c.-26-2180T>C (UGT2B7) NP_001336497.1:n.-26-2180T>C
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