Canonical Allele Identifier: CA552412189
Gene: UGT2B17 HGNC NCBI
UGT2B15 HGNC NCBI

Linked Data

dbSNP Id: rs1292915495
gnomAD v2: 4-69425753-T-A
gnomAD v3: 4-68560035-T-A
gnomAD v4: 4-68560035-T-A
MyVariant Identifiers: chr4:g.69425753T>A (hg19) chr4:g.68560035T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.68560035T>A , CM000666.2:g.68560035T>A GRCh38
NC_000004.11:g.69425753T>A , CM000666.1:g.69425753T>A GRCh37
NC_000004.10:g.69108348T>A NCBI36
NG_017033.1:g.13493A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317746.3:c.1005+502A>T (UGT2B17) MANE Select ENSP00000320401.2:n.1005+502A>T
ENST00000684088.1:c.255+502A>T (UGT2B17) ENSP00000507374.1:n.255+502A>T
ENST00000317746.2:c.1005+502A>T (UGT2B17) ENSP00000320401.2:n.1005+502A>T
ENST00000616841.4:c.1733-22509A>T (UGT2B15) ENSP00000482004.1:n.1733-22509A>T
NM_001077.3:c.1005+502A>T (UGT2B17) NP_001068.1:n.1005+502A>T
XM_024454205.1:c.1005+502A>T (UGT2B17) XP_024309973.1:n.1005+502A>T
NM_001077.4:c.1005+502A>T (UGT2B17) MANE Select NP_001068.1:n.1005+502A>T
Search 100 bp 5'
Search 100 bp 3'