Canonical Allele Identifier: CA552412107
Gene: UGT2B17 HGNC NCBI
UGT2B15 HGNC NCBI

Linked Data

dbSNP Id: rs1205725329
gnomAD v2: 4-69425405-G-A
gnomAD v3: 4-68559687-G-A
gnomAD v4: 4-68559687-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.68559687G>A , CM000666.2:g.68559687G>A GRCh38
NC_000004.11:g.69425405G>A , CM000666.1:g.69425405G>A GRCh37
NC_000004.10:g.69108000G>A NCBI36
NG_017033.1:g.13841C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000317746.3:c.1005+850C>T (UGT2B17) MANE Select ENSP00000320401.2:n.1005+850C>T
ENST00000684088.1:c.255+850C>T (UGT2B17) ENSP00000507374.1:n.255+850C>T
ENST00000317746.2:c.1005+850C>T (UGT2B17) ENSP00000320401.2:n.1005+850C>T
ENST00000616841.4:c.1733-22161C>T (UGT2B15) ENSP00000482004.1:n.1733-22161C>T
NM_001077.3:c.1005+850C>T (UGT2B17) NP_001068.1:n.1005+850C>T
XM_024454205.1:c.1005+850C>T (UGT2B17) XP_024309973.1:n.1005+850C>T
NM_001077.4:c.1005+850C>T (UGT2B17) MANE Select NP_001068.1:n.1005+850C>T