Canonical Allele Identifier: CA2944536

Gene: UGT2B7 UGT2B11

Linked Data

• ClinVar Variation Id: 829053
• ClinVar RCV Id: RCV001028970
• dbSNP Id: rs12233719
• ExAC: 4:69962449 G / T
• gnomAD v2: 4-69962449-G-T
• gnomAD v3: 4-69096731-G-T
• gnomAD v4: 4-69096731-G-T
• MyVariant Identifiers: chr4:g.69962449G>T (hg19) ; chr4:g.69096731G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.69096731G>T , CM000666.2:g.69096731G>T	GRCh38
NC_000004.11:g.69962449G>T , CM000666.1:g.69962449G>T	GRCh37
NC_000004.10:g.69997038G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000305231.12:c.211G>T (UGT2B7) MANE Select	ENSP00000304811.7:p.Ala71Ser
ENST00000305231.11:c.211G>T (UGT2B7)	ENSP00000304811.7:p.Ala71Ser
ENST00000502942.5:c.-26-1809G>T (UGT2B7)	ENSP00000426206.1:n.-26-1809G>T
ENST00000508661.5:c.211G>T (UGT2B7)	ENSP00000427659.1:p.Ala71Ser
ENST00000509763.1:n.260-1809G>T (UGT2B7)
ENST00000615638.4:c.*106-91978C>A (UGT2B11)	ENSP00000477842.1:n.*106-91978C>A
ENST00000620779.4:c.*380-91978C>A (UGT2B11)	ENSP00000478182.1:n.*380-91978C>A
ENST00000622664.1:c.211G>T (UGT2B7)	ENSP00000483172.1:p.Ala71Ser
NM_001074.2:c.211G>T (UGT2B7)	NP_001065.2:p.Ala71Ser
XM_005265702.2:c.-26-1809G>T (UGT2B7)	XP_005265759.1:n.-26-1809G>T
XM_011532229.1:c.211G>T (UGT2B7)	XP_011530531.1:p.Ala71Ser
XM_011532230.1:c.211G>T (UGT2B7)	XP_011530532.1:p.Ala71Ser
XM_011532231.1:c.-26-1809G>T (UGT2B7)	XP_011530533.1:n.-26-1809G>T
NM_001074.3:c.211G>T (UGT2B7)	NP_001065.2:p.Ala71Ser
NM_001330719.1:c.211G>T (UGT2B7)	NP_001317648.1:p.Ala71Ser
NM_001349568.1:c.-26-1809G>T (UGT2B7)	NP_001336497.1:n.-26-1809G>T
XM_011532229.2:c.211G>T (UGT2B7)	XP_011530531.1:p.Ala71Ser
NM_001074.4:c.211G>T (UGT2B7) MANE Select	NP_001065.2:p.Ala71Ser
NM_001330719.2:c.211G>T (UGT2B7)	NP_001317648.1:p.Ala71Ser
NM_001349568.2:c.-26-1809G>T (UGT2B7)	NP_001336497.1:n.-26-1809G>T