Canonical Allele Identifier: CA2944657

Gene: UGT2B7 UGT2B11

Linked Data

• ClinVar Variation Id: 828230
• ClinVar RCV Id: RCV001028140
• dbSNP Id: rs7438244
• ExAC: 4:69964209 A / G
• gnomAD v2: 4-69964209-A-G
• gnomAD v3: 4-69098491-A-G
• gnomAD v4: 4-69098491-A-G
• MyVariant Identifiers: chr4:g.69964209A>G (hg19) ; chr4:g.69098491A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.69098491A>G , CM000666.2:g.69098491A>G	GRCh38
NC_000004.11:g.69964209A>G , CM000666.1:g.69964209A>G	GRCh37
NC_000004.10:g.69998798A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000305231.12:c.722-49A>G (UGT2B7) MANE Select	ENSP00000304811.7:n.722-49A>G
ENST00000305231.11:c.722-49A>G (UGT2B7)	ENSP00000304811.7:n.722-49A>G
ENST00000502942.5:c.-26-49A>G (UGT2B7)	ENSP00000426206.1:n.-26-49A>G
ENST00000508661.5:c.722-49A>G (UGT2B7)	ENSP00000427659.1:n.722-49A>G
ENST00000509763.1:n.260-49A>G (UGT2B7)
ENST00000615638.4:c.*106-93738T>C (UGT2B11)	ENSP00000477842.1:n.*106-93738T>C
ENST00000620779.4:c.*380-93738T>C (UGT2B11)	ENSP00000478182.1:n.*380-93738T>C
ENST00000622664.1:c.722-49A>G (UGT2B7)	ENSP00000483172.1:n.722-49A>G
NM_001074.2:c.722-49A>G (UGT2B7)	NP_001065.2:n.722-49A>G
XM_005265702.2:c.-26-49A>G (UGT2B7)	XP_005265759.1:n.-26-49A>G
XM_011532229.1:c.722-49A>G (UGT2B7)	XP_011530531.1:n.722-49A>G
XM_011532230.1:c.722-49A>G (UGT2B7)	XP_011530532.1:n.722-49A>G
XM_011532231.1:c.-26-49A>G (UGT2B7)	XP_011530533.1:n.-26-49A>G
NM_001074.3:c.722-49A>G (UGT2B7)	NP_001065.2:n.722-49A>G
NM_001330719.1:c.722-49A>G (UGT2B7)	NP_001317648.1:n.722-49A>G
NM_001349568.1:c.-26-49A>G (UGT2B7)	NP_001336497.1:n.-26-49A>G
XM_011532229.2:c.722-49A>G (UGT2B7)	XP_011530531.1:n.722-49A>G
NM_001074.4:c.722-49A>G (UGT2B7) MANE Select	NP_001065.2:n.722-49A>G
NM_001330719.2:c.722-49A>G (UGT2B7)	NP_001317648.1:n.722-49A>G
NM_001349568.2:c.-26-49A>G (UGT2B7)	NP_001336497.1:n.-26-49A>G