Canonical Allele Identifier: CA1063754118
Gene: UGT2B17 HGNC NCBI
UGT2B15 HGNC NCBI

Linked Data

dbSNP Id: rs1731066777
gnomAD v3: 4-68559666-C-T
gnomAD v4: 4-68559666-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.68559666C>T , CM000666.2:g.68559666C>T GRCh38
NC_000004.11:g.69425384C>T , CM000666.1:g.69425384C>T GRCh37
NC_000004.10:g.69107979C>T NCBI36
NG_017033.1:g.13862G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317746.3:c.1005+871G>A (UGT2B17) MANE Select ENSP00000320401.2:n.1005+871G>A
ENST00000684088.1:c.255+871G>A (UGT2B17) ENSP00000507374.1:n.255+871G>A
ENST00000317746.2:c.1005+871G>A (UGT2B17) ENSP00000320401.2:n.1005+871G>A
ENST00000616841.4:c.1733-22140G>A (UGT2B15) ENSP00000482004.1:n.1733-22140G>A
NM_001077.3:c.1005+871G>A (UGT2B17) NP_001068.1:n.1005+871G>A
XM_024454205.1:c.1005+871G>A (UGT2B17) XP_024309973.1:n.1005+871G>A
NM_001077.4:c.1005+871G>A (UGT2B17) MANE Select NP_001068.1:n.1005+871G>A