Linked Data
ClinVar Variation Id:
296312
dbSNP Id:
rs147400126
ExAC:
1:235611971 C / T
gnomAD v2:
1-235611971-C-T
gnomAD v3:
1-235448656-C-T
gnomAD v4:
1-235448656-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235448656C>T , CM000663.2:g.235448656C>T | GRCh38 |
| NC_000001.10:g.235611971C>T , CM000663.1:g.235611971C>T | GRCh37 |
| NC_000001.9:g.233678594C>T | NCBI36 |
| NG_009230.1:g.86244C>T | |
| NG_033219.2:g.60826G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366600.8:c.*1550G>A (B3GALNT2) MANE Select | ENSP00000355559.3:n.*1550G>A | |
| ENST00000366601.8:c.1303-14C>T (TBCE) | ENSP00000355560.4:n.1303-14C>T | |
| ENST00000406207.5:c.1492-14C>T (TBCE) | ENSP00000384571.1:n.1492-14C>T | |
| ENST00000465463.2:n.1429C>T (TBCE) | ||
| ENST00000472011.6:n.2216-14C>T (TBCE) | ||
| ENST00000543662.4:c.1645-14C>T (TBCE) | ENSP00000439170.1:n.1645-14C>T | |
| ENST00000642339.1:c.*1189-14C>T (TBCE) | ENSP00000495425.1:n.*1189-14C>T | |
| ENST00000642431.1:c.2069-14C>T | ||
| ENST00000642463.1:c.*1390-14C>T (TBCE) | ENSP00000495007.1:n.*1390-14C>T | |
| ENST00000642503.1:c.*1266-14C>T | ENSP00000494334.1:n.*1266-14C>T | |
| ENST00000642610.2:c.1492-14C>T (TBCE) MANE Select | ENSP00000494796.1:n.1492-14C>T | |
| ENST00000642764.1:n.2323-14C>T (TBCE) | ||
| ENST00000643125.1:c.*507-14C>T (TBCE) | ENSP00000494102.1:n.*507-14C>T | |
| ENST00000643142.1:c.*983-14C>T (TBCE) | ENSP00000494755.1:n.*983-14C>T | |
| ENST00000643410.1:c.*782-14C>T | ENSP00000495030.1:n.*782-14C>T | |
| ENST00000643487.1:n.2179-14C>T (TBCE) | ||
| ENST00000643524.1:c.*1077-14C>T (TBCE) | ENSP00000494026.1:n.*1077-14C>T | |
| ENST00000643615.1:c.*1338-14C>T (TBCE) | ENSP00000496103.1:n.*1338-14C>T | |
| ENST00000643993.1:n.1843C>T (TBCE) | ||
| ENST00000643994.1:c.*1492-14C>T (TBCE) | ENSP00000496322.1:n.*1492-14C>T | |
| ENST00000644037.1:c.*1702-14C>T (TBCE) | ENSP00000496408.1:n.*1702-14C>T | |
| ENST00000644055.1:c.*2117-14C>T | ENSP00000496307.1:n.*2117-14C>T | |
| ENST00000644126.1:n.3379C>T (TBCE) | ||
| ENST00000644217.1:c.1558-14C>T (TBCE) | ENSP00000494646.1:n.1558-14C>T | |
| ENST00000644578.1:c.1372-14C>T (TBCE) | ENSP00000495953.1:n.1372-14C>T | |
| ENST00000644604.1:c.1492-14C>T | ENSP00000495961.1:n.1492-14C>T | |
| ENST00000644680.1:c.*2013-14C>T | ENSP00000496173.1:n.*2013-14C>T | |
| ENST00000644838.1:c.*875-14C>T (TBCE) | ENSP00000495910.1:n.*875-14C>T | |
| ENST00000644910.1:c.2099-14C>T (TBCE) | ||
| ENST00000645205.1:c.1492-14C>T | ENSP00000495823.1:n.1492-14C>T | |
| ENST00000645351.1:c.1492-14C>T | ENSP00000494319.1:n.1492-14C>T | |
| ENST00000645551.1:c.*1209-14C>T (TBCE) | ENSP00000495928.1:n.*1209-14C>T | |
| ENST00000645578.1:c.*1266-14C>T | ENSP00000496495.1:n.*1266-14C>T | |
| ENST00000645582.1:c.*1322-14C>T (TBCE) | ENSP00000494980.1:n.*1322-14C>T | |
| ENST00000645655.1:c.1492-14C>T | ENSP00000495202.1:n.1492-14C>T | |
| ENST00000645836.1:c.*1266-14C>T | ENSP00000493915.1:n.*1266-14C>T | |
| ENST00000645964.1:c.*1358-14C>T (TBCE) | ENSP00000494208.1:n.*1358-14C>T | |
| ENST00000646104.1:c.*1960-14C>T (TBCE) | ENSP00000495475.1:n.*1960-14C>T | |
| ENST00000646186.1:c.*1164-14C>T (TBCE) | ENSP00000493806.1:n.*1164-14C>T | |
| ENST00000646286.1:c.*1385-14C>T (TBCE) | ENSP00000494291.1:n.*1385-14C>T | |
| ENST00000646463.1:c.*1257-14C>T (TBCE) | ENSP00000494541.1:n.*1257-14C>T | |
| ENST00000646528.1:c.*2208-14C>T | ENSP00000496553.1:n.*2208-14C>T | |
| ENST00000646536.1:c.*786-14C>T (TBCE) | ENSP00000494801.1:n.*786-14C>T | |
| ENST00000646624.1:c.1492-14C>T | ENSP00000494575.1:n.1492-14C>T | |
| ENST00000646661.1:n.272-14C>T (TBCE) | ||
| ENST00000646821.1:c.*782-14C>T (TBCE) | ENSP00000495257.1:n.*782-14C>T | |
| ENST00000646848.1:c.*707-14C>T (TBCE) | ENSP00000495831.1:n.*707-14C>T | |
| ENST00000647151.1:c.216-14C>T (TBCE) | ENSP00000495125.1:n.216-14C>T | |
| ENST00000647186.1:c.1492-14C>T | ENSP00000494775.1:n.1492-14C>T | |
| ENST00000647233.1:n.2472-14C>T (TBCE) | ||
| ENST00000647322.1:c.1083-14C>T (TBCE) | ||
| ENST00000647418.1:c.*1266-14C>T (TBCE) | ENSP00000493552.1:n.*1266-14C>T | |
| ENST00000647428.1:c.1153-14C>T | ENSP00000495630.1:n.1153-14C>T | |
| ENST00000651186.1:c.1153-14C>T (TBCE) | ENSP00000498645.1:n.1153-14C>T | |
| ENST00000675193.1:c.*1993G>A (B3GALNT2) | ENSP00000502069.1:n.*1993G>A | |
| ENST00000366601.7:c.1492-14C>T | ENSP00000355560.3:n.1492-14C>T | |
| ENST00000406207.4:c.1492-14C>T | ENSP00000384571.1:n.1492-14C>T | |
| ENST00000472011.5:n.1544-14C>T | ||
| ENST00000543662.3:c.1645-14C>T | ENSP00000439170.1:n.1645-14C>T | |
| NM_001079515.2:c.1492-14C>T (TBCE) | NP_001072983.1:n.1492-14C>T | |
| NM_001287801.1:c.1645-14C>T (TBCE) | NP_001274730.1:n.1645-14C>T | |
| NM_001287802.1:c.1153-14C>T (TBCE) | NP_001274731.1:n.1153-14C>T | |
| NM_003193.4:c.1492-14C>T (TBCE) | NP_003184.1:n.1492-14C>T | |
| NM_152490.4:c.*1550G>A (B3GALNT2) | NP_689703.1:n.*1550G>A | |
| XM_006711749.2:c.1469+1584G>A (B3GALNT2) | XP_006711812.1:n.1469+1584G>A | |
| XM_006711749.3:c.1469+1584G>A (B3GALNT2) | XP_006711812.1:n.1469+1584G>A | |
| XM_017000394.1:c.*1550G>A (B3GALNT2) | XP_016855883.1:n.*1550G>A | |
| XM_017000395.1:c.*1729G>A (B3GALNT2) | XP_016855884.1:n.*1729G>A | |
| XR_001736987.1:n.3157G>A (B3GALNT2) | ||
| XR_001736989.1:n.3078G>A (B3GALNT2) | ||
| XR_001736990.1:n.3040G>A (B3GALNT2) | ||
| NM_003193.5:c.1492-14C>T (TBCE) MANE Select | NP_003184.1:n.1492-14C>T | |
| NM_152490.5:c.*1550G>A (B3GALNT2) MANE Select | NP_689703.1:n.*1550G>A | |
| NM_001079515.3:c.1492-14C>T (TBCE) | NP_001072983.1:n.1492-14C>T | |
| NM_001287801.2:c.1645-14C>T (TBCE) | NP_001274730.1:n.1645-14C>T | |
| NM_001287802.2:c.1153-14C>T (TBCE) | NP_001274731.1:n.1153-14C>T |