Canonical Allele Identifier: CA2944689

Gene: UGT2B7 UGT2B11

Linked Data

• dbSNP Id: rs182011163
• ExAC: 4:69964299 G / A
• gnomAD v2: 4-69964299-G-A
• gnomAD v3: 4-69098581-G-A
• gnomAD v4: 4-69098581-G-A
• COSMIC: COSM481443
• MyVariant Identifiers: chr4:g.69964299G>A (hg19) ; chr4:g.69098581G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.69098581G>A , CM000666.2:g.69098581G>A	GRCh38
NC_000004.11:g.69964299G>A , CM000666.1:g.69964299G>A	GRCh37
NC_000004.10:g.69998888G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000305231.12:c.763G>A (UGT2B7) MANE Select	ENSP00000304811.7:p.Val255Ile
ENST00000305231.11:c.763G>A (UGT2B7)	ENSP00000304811.7:p.Val255Ile
ENST00000502942.5:c.16G>A (UGT2B7)	ENSP00000426206.1:p.Val6Ile
ENST00000508661.5:c.763G>A (UGT2B7)	ENSP00000427659.1:p.Val255Ile
ENST00000509763.1:n.301G>A (UGT2B7)
ENST00000615638.4:c.*106-93828C>T (UGT2B11)	ENSP00000477842.1:n.*106-93828C>T
ENST00000620779.4:c.*380-93828C>T (UGT2B11)	ENSP00000478182.1:n.*380-93828C>T
ENST00000622664.1:c.763G>A (UGT2B7)	ENSP00000483172.1:p.Val255Ile
NM_001074.2:c.763G>A (UGT2B7)	NP_001065.2:p.Val255Ile
XM_005265702.2:c.16G>A (UGT2B7)	XP_005265759.1:p.Val6Ile
XM_011532229.1:c.763G>A (UGT2B7)	XP_011530531.1:p.Val255Ile
XM_011532230.1:c.763G>A (UGT2B7)	XP_011530532.1:p.Val255Ile
XM_011532231.1:c.16G>A (UGT2B7)	XP_011530533.1:p.Val6Ile
NM_001074.3:c.763G>A (UGT2B7)	NP_001065.2:p.Val255Ile
NM_001330719.1:c.763G>A (UGT2B7)	NP_001317648.1:p.Val255Ile
NM_001349568.1:c.16G>A (UGT2B7)	NP_001336497.1:p.Val6Ile
XM_011532229.2:c.763G>A (UGT2B7)	XP_011530531.1:p.Val255Ile
NM_001074.4:c.763G>A (UGT2B7) MANE Select	NP_001065.2:p.Val255Ile
NM_001330719.2:c.763G>A (UGT2B7)	NP_001317648.1:p.Val255Ile
NM_001349568.2:c.16G>A (UGT2B7)	NP_001336497.1:p.Val6Ile