Linked Data
ClinVar Variation Id:
197672
dbSNP Id:
rs114982090
ExAC:
2:234680955 C / T
gnomAD v2:
2-234680955-C-T
gnomAD v3:
2-233772309-C-T
gnomAD v4:
2-233772309-C-T
MyVariant Identifiers:
chr2:g.234680955C>T (hg19)
chr2:g.234680955_234680959delinsTGGTG (hg19)
chr2:g.233772309C>T (hg38)
chr2:g.233772309_233772313delinsTGGTG (hg38)
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233772309C>T , CM000664.2:g.233772309C>T | GRCh38 |
| NC_000002.11:g.234680955C>T , CM000664.1:g.234680955C>T | GRCh37 |
| NC_000002.10:g.234345694C>T | NCBI36 |
| NG_002601.2:g.187566C>T | |
| NG_033238.1:g.17037C>T , LRG_733:g.17037C>T | |
| NG_051337.1:g.1648C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344644.10:c.1343C>T (UGT1A10) MANE Select | ENSP00000343838.5:p.Pro448Leu | |
| ENST00000373414.4:c.1355C>T (UGT1A5) MANE Select | ENSP00000362513.3:p.Pro452Leu | |
| ENST00000373426.4:c.1343C>T (UGT1A7) MANE Select | ENSP00000362525.3:p.Pro448Leu | |
| ENST00000373450.5:c.1343C>T (UGT1A8) MANE Select | ENSP00000362549.4:p.Pro448Leu | |
| ENST00000482026.6:c.1355C>T (UGT1A3) MANE Select | ENSP00000418532.1:p.Pro452Leu | |
| ENST00000305139.11:c.1349C>T (UGT1A6) MANE Select | ENSP00000303174.6:p.Pro450Leu | |
| ENST00000305208.10:c.1352C>T (UGT1A1) MANE Select | ENSP00000304845.5:p.Pro451Leu | |
| ENST00000354728.5:c.1343C>T (UGT1A9) MANE Select | ENSP00000346768.4:p.Pro448Leu | |
| ENST00000373409.8:c.1355C>T (UGT1A4) MANE Select | ENSP00000362508.4:p.Pro452Leu | |
| ENST00000305139.10:c.1349C>T (UGT1A6) | ENSP00000303174.6:p.Pro450Leu | |
| ENST00000305208.9:c.1352C>T (UGT1A1) | ENSP00000304845.5:p.Pro451Leu | |
| ENST00000344644.9:c.1343C>T (UGT1A10) | ENSP00000343838.5:p.Pro448Leu | |
| ENST00000354728.4:c.1343C>T (UGT1A9) | ENSP00000346768.4:p.Pro448Leu | |
| ENST00000373409.7:c.1355C>T (UGT1A4) | ENSP00000362508.3:p.Pro452Leu | |
| ENST00000373414.3:c.1355C>T | ENSP00000362513.3:p.Pro452Leu | |
| ENST00000373424.5:c.548C>T (UGT1A6) | ENSP00000362523.1:p.Pro183Leu | |
| ENST00000373426.3:c.1343C>T (UGT1A7) | ENSP00000362525.3:p.Pro448Leu | |
| ENST00000373450.4:c.1343C>T (UGT1A8) | ENSP00000362549.4:p.Pro448Leu | |
| ENST00000446481.6:c.*151C>T (UGT1A6) | ENSP00000401541.1:n.*151C>T | |
| ENST00000450233.1:c.1489C>T (UGT1A4) | ENSP00000408608.1:n.1489C>T | |
| ENST00000482026.5:c.1355C>T | ENSP00000418532.1:p.Pro452Leu | |
| NM_000463.2:c.1352C>T , LRG_733t1:c.1352C>T (UGT1A1) | NP_000454.1:p.Pro451Leu | |
| NM_001072.3:c.1349C>T (UGT1A6) | NP_001063.2:p.Pro450Leu | |
| NM_007120.2:c.1355C>T (UGT1A4) | NP_009051.1:p.Pro452Leu | |
| NM_019075.2:c.1343C>T (UGT1A10) | NP_061948.1:p.Pro448Leu | |
| NM_019076.4:c.1343C>T (UGT1A8) | NP_061949.3:p.Pro448Leu | |
| NM_019077.2:c.1343C>T (UGT1A7) | NP_061950.2:p.Pro448Leu | |
| NM_019078.1:c.1355C>T (UGT1A5) | NP_061951.1:p.Pro452Leu | |
| NM_019093.2:c.1355C>T (UGT1A3) | NP_061966.1:p.Pro452Leu | |
| NM_021027.2:c.1343C>T (UGT1A9) | NP_066307.1:p.Pro448Leu | |
| NM_205862.1:c.548C>T (UGT1A6) | NP_995584.1:p.Pro183Leu | |
| NM_001072.4:c.1349C>T (UGT1A6) MANE Select | NP_001063.2:p.Pro450Leu | |
| NM_021027.3:c.1343C>T (UGT1A9) MANE Select | NP_066307.1:p.Pro448Leu | |
| NM_000463.3:c.1352C>T (UGT1A1) MANE Select | NP_000454.1:p.Pro451Leu | |
| NM_007120.3:c.1355C>T (UGT1A4) MANE Select | NP_009051.1:p.Pro452Leu | |
| NM_019093.4:c.1355C>T (UGT1A3) MANE Select | NP_061966.1:p.Pro452Leu | |
| NM_205862.2:c.548C>T (UGT1A6) | NP_995584.1:p.Pro183Leu | |
| NM_019075.4:c.1343C>T (UGT1A10) MANE Select | NP_061948.1:p.Pro448Leu | |
| NM_019076.5:c.1343C>T (UGT1A8) MANE Select | NP_061949.3:p.Pro448Leu | |
| NM_019077.3:c.1343C>T (UGT1A7) MANE Select | NP_061950.2:p.Pro448Leu | |
| NM_019078.2:c.1355C>T (UGT1A5) MANE Select | NP_061951.1:p.Pro452Leu | |
| NM_205862.3:c.548C>T (UGT1A6) | NP_995584.1:p.Pro183Leu |