Canonical Allele Identifier: CA797837213
Gene: UGT2B7 HGNC NCBI
UGT2B11 HGNC NCBI

Linked Data

dbSNP Id: rs1189003839
gnomAD v3: 4-69098374-T-C
gnomAD v4: 4-69098374-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.69098374T>C , CM000666.2:g.69098374T>C GRCh38
NC_000004.11:g.69964092T>C , CM000666.1:g.69964092T>C GRCh37
NC_000004.10:g.69998681T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000305231.12:c.722-166T>C (UGT2B7) MANE Select ENSP00000304811.7:n.722-166T>C
ENST00000305231.11:c.722-166T>C (UGT2B7) ENSP00000304811.7:n.722-166T>C
ENST00000502942.5:c.-26-166T>C (UGT2B7) ENSP00000426206.1:n.-26-166T>C
ENST00000508661.5:c.722-166T>C (UGT2B7) ENSP00000427659.1:n.722-166T>C
ENST00000509763.1:n.260-166T>C (UGT2B7)
ENST00000615638.4:c.*106-93621A>G (UGT2B11) ENSP00000477842.1:n.*106-93621A>G
ENST00000620779.4:c.*380-93621A>G (UGT2B11) ENSP00000478182.1:n.*380-93621A>G
ENST00000622664.1:c.722-166T>C (UGT2B7) ENSP00000483172.1:n.722-166T>C
NM_001074.2:c.722-166T>C (UGT2B7) NP_001065.2:n.722-166T>C
XM_005265702.2:c.-26-166T>C (UGT2B7) XP_005265759.1:n.-26-166T>C
XM_011532229.1:c.722-166T>C (UGT2B7) XP_011530531.1:n.722-166T>C
XM_011532230.1:c.722-166T>C (UGT2B7) XP_011530532.1:n.722-166T>C
XM_011532231.1:c.-26-166T>C (UGT2B7) XP_011530533.1:n.-26-166T>C
NM_001074.3:c.722-166T>C (UGT2B7) NP_001065.2:n.722-166T>C
NM_001330719.1:c.722-166T>C (UGT2B7) NP_001317648.1:n.722-166T>C
NM_001349568.1:c.-26-166T>C (UGT2B7) NP_001336497.1:n.-26-166T>C
XM_011532229.2:c.722-166T>C (UGT2B7) XP_011530531.1:n.722-166T>C
NM_001074.4:c.722-166T>C (UGT2B7) MANE Select NP_001065.2:n.722-166T>C
NM_001330719.2:c.722-166T>C (UGT2B7) NP_001317648.1:n.722-166T>C
NM_001349568.2:c.-26-166T>C (UGT2B7) NP_001336497.1:n.-26-166T>C