Canonical Allele Identifier: CA1063763906
Gene: UGT2B17 HGNC NCBI
UGT2B15 HGNC NCBI

Linked Data

dbSNP Id: rs1731217110
gnomAD v3: 4-68567260-T-C
gnomAD v4: 4-68567260-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.68567260T>C , CM000666.2:g.68567260T>C GRCh38
NC_000004.11:g.69432978T>C , CM000666.1:g.69432978T>C GRCh37
NC_000004.10:g.69115573T>C NCBI36
NG_017033.1:g.6268A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317746.3:c.724+501A>G (UGT2B17) MANE Select ENSP00000320401.2:n.724+501A>G
ENST00000684088.1:c.-26-1540A>G (UGT2B17) ENSP00000507374.1:n.-26-1540A>G
ENST00000317746.2:c.724+501A>G (UGT2B17) ENSP00000320401.2:n.724+501A>G
ENST00000616841.4:c.1733-29734A>G (UGT2B15) ENSP00000482004.1:n.1733-29734A>G
NM_001077.3:c.724+501A>G (UGT2B17) NP_001068.1:n.724+501A>G
XM_024454205.1:c.724+501A>G (UGT2B17) XP_024309973.1:n.724+501A>G
NM_001077.4:c.724+501A>G (UGT2B17) MANE Select NP_001068.1:n.724+501A>G