Canonical Allele Identifier: CA357096690

Gene: UGT2B7 UGT2B11

Linked Data

• gnomAD v4: 4-69098561-A-C
• MyVariant Identifiers: chr4:g.69964279A>C (hg19) ; chr4:g.69098561A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.69098561A>C , CM000666.2:g.69098561A>C	GRCh38
NC_000004.11:g.69964279A>C , CM000666.1:g.69964279A>C	GRCh37
NC_000004.10:g.69998868A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000305231.12:c.743A>C (UGT2B7) MANE Select	ENSP00000304811.7:p.Glu248Ala
ENST00000305231.11:c.743A>C (UGT2B7)	ENSP00000304811.7:p.Glu248Ala
ENST00000502942.5:c.-5A>C (UGT2B7)	ENSP00000426206.1:n.-5A>C
ENST00000508661.5:c.743A>C (UGT2B7)	ENSP00000427659.1:p.Glu248Ala
ENST00000509763.1:n.281A>C (UGT2B7)
ENST00000615638.4:c.*106-93808T>G (UGT2B11)	ENSP00000477842.1:n.*106-93808T>G
ENST00000620779.4:c.*380-93808T>G (UGT2B11)	ENSP00000478182.1:n.*380-93808T>G
ENST00000622664.1:c.743A>C (UGT2B7)	ENSP00000483172.1:p.Glu248Ala
NM_001074.2:c.743A>C (UGT2B7)	NP_001065.2:p.Glu248Ala
XM_005265702.2:c.-5A>C (UGT2B7)	XP_005265759.1:n.-5A>C
XM_011532229.1:c.743A>C (UGT2B7)	XP_011530531.1:p.Glu248Ala
XM_011532230.1:c.743A>C (UGT2B7)	XP_011530532.1:p.Glu248Ala
XM_011532231.1:c.-5A>C (UGT2B7)	XP_011530533.1:n.-5A>C
NM_001074.3:c.743A>C (UGT2B7)	NP_001065.2:p.Glu248Ala
NM_001330719.1:c.743A>C (UGT2B7)	NP_001317648.1:p.Glu248Ala
NM_001349568.1:c.-5A>C (UGT2B7)	NP_001336497.1:n.-5A>C
XM_011532229.2:c.743A>C (UGT2B7)	XP_011530531.1:p.Glu248Ala
NM_001074.4:c.743A>C (UGT2B7) MANE Select	NP_001065.2:p.Glu248Ala
NM_001330719.2:c.743A>C (UGT2B7)	NP_001317648.1:p.Glu248Ala
NM_001349568.2:c.-5A>C (UGT2B7)	NP_001336497.1:n.-5A>C