Canonical Allele Identifier: CA11753258
Gene: UGT2A1 HGNC NCBI
UGT2A2 HGNC NCBI

Linked Data

dbSNP Id: rs4148298
gnomAD v2: 4-70464701-A-G
gnomAD v3: 4-69598983-A-G
gnomAD v4: 4-69598983-A-G
MyVariant Identifiers: chr4:g.70464701A>G (hg19) chr4:g.69598983A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.69598983A>G , CM000666.2:g.69598983A>G GRCh38
NC_000004.11:g.70464701A>G , CM000666.1:g.70464701A>G GRCh37
NC_000004.10:g.70499290A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000286604.9:c.996+263T>C (UGT2A1) MANE Select ENSP00000286604.4:n.996+263T>C
ENST00000604629.6:c.891+263T>C (UGT2A2) MANE Select ENSP00000475028.2:n.891+263T>C
ENST00000286604.8:c.996+263T>C (UGT2A1) ENSP00000286604.4:n.996+263T>C
ENST00000502343.1:n.221+263T>C (UGT2A1)
ENST00000503640.5:c.864+263T>C (UGT2A1) ENSP00000424478.1:n.864+263T>C
ENST00000512704.5:c.864+263T>C (UGT2A1) ENSP00000421432.1:n.864+263T>C
ENST00000514019.1:c.1494+263T>C (UGT2A1) ENSP00000425497.1:n.1494+263T>C
ENST00000514341.1:n.516+263T>C (UGT2A1)
ENST00000604021.1:c.891+263T>C (UGT2A2) ENSP00000474383.2:n.891+263T>C
ENST00000604629.5:c.891+263T>C (UGT2A2) ENSP00000475028.2:n.891+263T>C
NM_001105677.2:c.891+263T>C (UGT2A2) MANE Select NP_001099147.2:n.891+263T>C
NM_001252274.2:c.1494+263T>C (UGT2A1) NP_001239203.2:n.1494+263T>C
NM_001252275.2:c.996+263T>C (UGT2A1) NP_001239204.2:n.996+263T>C
NM_001301233.1:c.891+263T>C (UGT2A2) NP_001288162.1:n.891+263T>C
NM_001301239.1:c.864+263T>C (UGT2A1) NP_001288168.1:n.864+263T>C
NM_006798.4:c.864+263T>C (UGT2A1) NP_006789.3:n.864+263T>C
NM_001252274.3:c.1494+263T>C (UGT2A1) NP_001239203.2:n.1494+263T>C
NM_001252275.3:c.996+263T>C (UGT2A1) MANE Select NP_001239204.2:n.996+263T>C
NM_006798.5:c.864+263T>C (UGT2A1) NP_006789.3:n.864+263T>C
NM_001301239.2:c.864+263T>C (UGT2A1) NP_001288168.1:n.864+263T>C
NM_001389565.1:c.1494+263T>C (UGT2A1) NP_001376494.1:n.1494+263T>C
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