Canonical Allele Identifier: CA1063754221
Gene: UGT2B17 HGNC NCBI
UGT2B15 HGNC NCBI

Linked Data

dbSNP Id: rs1260055299
gnomAD v3: 4-68559802-G-A
gnomAD v4: 4-68559802-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.68559802G>A , CM000666.2:g.68559802G>A GRCh38
NC_000004.11:g.69425520G>A , CM000666.1:g.69425520G>A GRCh37
NC_000004.10:g.69108115G>A NCBI36
NG_017033.1:g.13726C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317746.3:c.1005+735C>T (UGT2B17) MANE Select ENSP00000320401.2:n.1005+735C>T
ENST00000684088.1:c.255+735C>T (UGT2B17) ENSP00000507374.1:n.255+735C>T
ENST00000317746.2:c.1005+735C>T (UGT2B17) ENSP00000320401.2:n.1005+735C>T
ENST00000616841.4:c.1733-22276C>T (UGT2B15) ENSP00000482004.1:n.1733-22276C>T
NM_001077.3:c.1005+735C>T (UGT2B17) NP_001068.1:n.1005+735C>T
XM_024454205.1:c.1005+735C>T (UGT2B17) XP_024309973.1:n.1005+735C>T
NM_001077.4:c.1005+735C>T (UGT2B17) MANE Select NP_001068.1:n.1005+735C>T