Linked Data
ClinVar Variation Id:
2250522
ClinVar RCV Id:
RCV002762923
dbSNP Id:
rs781384898
ExAC:
4:69964273 T / C
gnomAD v2:
4-69964273-T-C
gnomAD v4:
4-69098555-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.69098555T>C , CM000666.2:g.69098555T>C | GRCh38 |
| NC_000004.11:g.69964273T>C , CM000666.1:g.69964273T>C | GRCh37 |
| NC_000004.10:g.69998862T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000305231.12:c.737T>C (UGT2B7) MANE Select | ENSP00000304811.7:p.Leu246Ser | |
| ENST00000305231.11:c.737T>C (UGT2B7) | ENSP00000304811.7:p.Leu246Ser | |
| ENST00000502942.5:c.-11T>C (UGT2B7) | ENSP00000426206.1:n.-11T>C | |
| ENST00000508661.5:c.737T>C (UGT2B7) | ENSP00000427659.1:p.Leu246Ser | |
| ENST00000509763.1:n.275T>C (UGT2B7) | ||
| ENST00000615638.4:c.*106-93802A>G (UGT2B11) | ENSP00000477842.1:n.*106-93802A>G | |
| ENST00000620779.4:c.*380-93802A>G (UGT2B11) | ENSP00000478182.1:n.*380-93802A>G | |
| ENST00000622664.1:c.737T>C (UGT2B7) | ENSP00000483172.1:p.Leu246Ser | |
| NM_001074.2:c.737T>C (UGT2B7) | NP_001065.2:p.Leu246Ser | |
| XM_005265702.2:c.-11T>C (UGT2B7) | XP_005265759.1:n.-11T>C | |
| XM_011532229.1:c.737T>C (UGT2B7) | XP_011530531.1:p.Leu246Ser | |
| XM_011532230.1:c.737T>C (UGT2B7) | XP_011530532.1:p.Leu246Ser | |
| XM_011532231.1:c.-11T>C (UGT2B7) | XP_011530533.1:n.-11T>C | |
| NM_001074.3:c.737T>C (UGT2B7) | NP_001065.2:p.Leu246Ser | |
| NM_001330719.1:c.737T>C (UGT2B7) | NP_001317648.1:p.Leu246Ser | |
| NM_001349568.1:c.-11T>C (UGT2B7) | NP_001336497.1:n.-11T>C | |
| XM_011532229.2:c.737T>C (UGT2B7) | XP_011530531.1:p.Leu246Ser | |
| NM_001074.4:c.737T>C (UGT2B7) MANE Select | NP_001065.2:p.Leu246Ser | |
| NM_001330719.2:c.737T>C (UGT2B7) | NP_001317648.1:p.Leu246Ser | |
| NM_001349568.2:c.-11T>C (UGT2B7) | NP_001336497.1:n.-11T>C |