Canonical Allele Identifier: CA15360319

Gene: UGT2A1 UGT2A2

Linked Data

• dbSNP Id: rs10017134
• gnomAD v2: 4-70457021-T-C
• gnomAD v3: 4-69591303-T-C
• gnomAD v4: 4-69591303-T-C
• MyVariant Identifiers: chr4:g.70457021T>C (hg19) ; chr4:g.69591303T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.69591303T>C , CM000666.2:g.69591303T>C	GRCh38
NC_000004.11:g.70457021T>C , CM000666.1:g.70457021T>C	GRCh37
NC_000004.10:g.70491610T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000286604.9:c.1305-1652A>G (UGT2A1) MANE Select	ENSP00000286604.4:n.1305-1652A>G
ENST00000604629.6:c.1332-1652A>G (UGT2A2) MANE Select	ENSP00000475028.2:n.1332-1652A>G
ENST00000286604.8:c.1305-1652A>G (UGT2A1)	ENSP00000286604.4:n.1305-1652A>G
ENST00000502343.1:n.530-1652A>G (UGT2A1)
ENST00000503640.5:c.1305-1652A>G (UGT2A1)	ENSP00000424478.1:n.1305-1652A>G
ENST00000512704.5:c.1173-1652A>G (UGT2A1)	ENSP00000421432.1:n.1173-1652A>G
ENST00000514019.1:c.1803-1652A>G (UGT2A1)	ENSP00000425497.1:n.1803-1652A>G
ENST00000604021.1:c.1200-1652A>G (UGT2A2)	ENSP00000474383.2:n.1200-1652A>G
ENST00000604629.5:c.1332-1652A>G (UGT2A2)	ENSP00000475028.2:n.1332-1652A>G
NM_001105677.2:c.1332-1652A>G (UGT2A2) MANE Select	NP_001099147.2:n.1332-1652A>G
NM_001252274.2:c.1803-1652A>G (UGT2A1)	NP_001239203.2:n.1803-1652A>G
NM_001252275.2:c.1305-1652A>G (UGT2A1)	NP_001239204.2:n.1305-1652A>G
NM_001301233.1:c.1200-1652A>G (UGT2A2)	NP_001288162.1:n.1200-1652A>G
NM_001301239.1:c.1173-1652A>G (UGT2A1)	NP_001288168.1:n.1173-1652A>G
NM_006798.4:c.1305-1652A>G (UGT2A1)	NP_006789.3:n.1305-1652A>G
NM_001252274.3:c.1803-1652A>G (UGT2A1)	NP_001239203.2:n.1803-1652A>G
NM_001252275.3:c.1305-1652A>G (UGT2A1) MANE Select	NP_001239204.2:n.1305-1652A>G
NM_006798.5:c.1305-1652A>G (UGT2A1)	NP_006789.3:n.1305-1652A>G
NM_001301239.2:c.1173-1652A>G (UGT2A1)	NP_001288168.1:n.1173-1652A>G
NM_001389565.1:c.1935-1652A>G (UGT2A1)	NP_001376494.1:n.1935-1652A>G