Canonical Allele Identifier: CA99379527
Gene: UGT2B17 HGNC NCBI
UGT2B15 HGNC NCBI
dbSNP:
7436338
gnomAD v2:
4:69433279 A / G
gnomAD v3:
4:68567561 A / G
gnomAD v4:
chr4-68567561-A-G
Joint Max Group AF 0.98363025 (NFE)
Genomes Max Group AF 0.98363025 (NFE)
MyVariant.info:
GRCh38 chr4:g.68567561A>G
GRCh37 chr4:g.69433279A>G
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.68567561A>G , CM000666.2:g.68567561A>G GRCh38
NC_000004.11:g.69433279A>G , CM000666.1:g.69433279A>G GRCh37
NC_000004.10:g.69115874A>G NCBI36
NG_017033.1:g.5967T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000317746.3:c.724+200T>C (UGT2B17) MANE Select ENSP00000320401.2:n.724+200T>C
ENST00000684088.1:c.-26-1841T>C (UGT2B17) ENSP00000507374.1:n.-26-1841T>C
ENST00000317746.2:c.724+200T>C (UGT2B17) ENSP00000320401.2:n.724+200T>C
ENST00000616841.4:c.1733-30035T>C (UGT2B15) ENSP00000482004.1:n.1733-30035T>C
NM_001077.3:c.724+200T>C (UGT2B17) NP_001068.1:n.724+200T>C
XM_024454205.1:c.724+200T>C (UGT2B17) XP_024309973.1:n.724+200T>C
NM_001077.4:c.724+200T>C (UGT2B17) MANE Select NP_001068.1:n.724+200T>C
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