Canonical Allele Identifier: CA1063754369
Gene: UGT2B17 HGNC NCBI
UGT2B15 HGNC NCBI

Linked Data

dbSNP Id: rs1731073875
gnomAD v3: 4-68559991-A-G
gnomAD v4: 4-68559991-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.68559991A>G , CM000666.2:g.68559991A>G GRCh38
NC_000004.11:g.69425709A>G , CM000666.1:g.69425709A>G GRCh37
NC_000004.10:g.69108304A>G NCBI36
NG_017033.1:g.13537T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000317746.3:c.1005+546T>C (UGT2B17) MANE Select ENSP00000320401.2:n.1005+546T>C
ENST00000684088.1:c.255+546T>C (UGT2B17) ENSP00000507374.1:n.255+546T>C
ENST00000317746.2:c.1005+546T>C (UGT2B17) ENSP00000320401.2:n.1005+546T>C
ENST00000616841.4:c.1733-22465T>C (UGT2B15) ENSP00000482004.1:n.1733-22465T>C
NM_001077.3:c.1005+546T>C (UGT2B17) NP_001068.1:n.1005+546T>C
XM_024454205.1:c.1005+546T>C (UGT2B17) XP_024309973.1:n.1005+546T>C
NM_001077.4:c.1005+546T>C (UGT2B17) MANE Select NP_001068.1:n.1005+546T>C