Linked Data
ClinVar Variation Id:
296315
ClinVar RCV Id:
RCV000383617
dbSNP Id:
rs78867315
gnomAD v2:
1-235612185-A-G
gnomAD v3:
1-235448870-A-G
gnomAD v4:
1-235448870-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235448870A>G , CM000663.2:g.235448870A>G | GRCh38 |
| NC_000001.10:g.235612185A>G , CM000663.1:g.235612185A>G | GRCh37 |
| NC_000001.9:g.233678808A>G | NCBI36 |
| NG_009230.1:g.86458A>G | |
| NG_033219.2:g.60612T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366600.8:c.*1336T>C (B3GALNT2) MANE Select | ENSP00000355559.3:n.*1336T>C | |
| ENST00000366601.8:c.*108A>G (TBCE) | ENSP00000355560.4:n.*108A>G | |
| ENST00000406207.5:c.*108A>G (TBCE) | ENSP00000384571.1:n.*108A>G | |
| ENST00000465463.2:n.1643A>G (TBCE) | ||
| ENST00000472011.6:n.2416A>G (TBCE) | ||
| ENST00000543662.4:c.*108A>G (TBCE) | ENSP00000439170.1:n.*108A>G | |
| ENST00000642339.1:c.*1389A>G (TBCE) | ENSP00000495425.1:n.*1389A>G | |
| ENST00000642431.1:c.2269A>G | ||
| ENST00000642463.1:c.*1590A>G (TBCE) | ENSP00000495007.1:n.*1590A>G | |
| ENST00000642610.2:c.*108A>G (TBCE) MANE Select | ENSP00000494796.1:n.*108A>G | |
| ENST00000642764.1:n.2523A>G (TBCE) | ||
| ENST00000643125.1:c.*707A>G (TBCE) | ENSP00000494102.1:n.*707A>G | |
| ENST00000643142.1:c.*1183A>G (TBCE) | ENSP00000494755.1:n.*1183A>G | |
| ENST00000643410.1:c.*982A>G | ENSP00000495030.1:n.*982A>G | |
| ENST00000643487.1:n.2379A>G (TBCE) | ||
| ENST00000643524.1:c.*1277A>G (TBCE) | ENSP00000494026.1:n.*1277A>G | |
| ENST00000643615.1:c.*1538A>G (TBCE) | ENSP00000496103.1:n.*1538A>G | |
| ENST00000643994.1:c.*1692A>G (TBCE) | ENSP00000496322.1:n.*1692A>G | |
| ENST00000644037.1:c.*1902A>G (TBCE) | ENSP00000496408.1:n.*1902A>G | |
| ENST00000644055.1:c.*2317A>G | ENSP00000496307.1:n.*2317A>G | |
| ENST00000644217.1:c.*108A>G (TBCE) | ENSP00000494646.1:n.*108A>G | |
| ENST00000644578.1:c.*108A>G (TBCE) | ENSP00000495953.1:n.*108A>G | |
| ENST00000644604.1:c.*108A>G | ENSP00000495961.1:n.*108A>G | |
| ENST00000644838.1:c.*1075A>G (TBCE) | ENSP00000495910.1:n.*1075A>G | |
| ENST00000644910.1:c.2299A>G (TBCE) | ||
| ENST00000645205.1:c.*108A>G | ENSP00000495823.1:n.*108A>G | |
| ENST00000645351.1:c.*108A>G | ENSP00000494319.1:n.*108A>G | |
| ENST00000645578.1:c.*1466A>G | ENSP00000496495.1:n.*1466A>G | |
| ENST00000645582.1:c.*1522A>G (TBCE) | ENSP00000494980.1:n.*1522A>G | |
| ENST00000645655.1:c.*108A>G | ENSP00000495202.1:n.*108A>G | |
| ENST00000645836.1:c.*1466A>G | ENSP00000493915.1:n.*1466A>G | |
| ENST00000645964.1:c.*1558A>G (TBCE) | ENSP00000494208.1:n.*1558A>G | |
| ENST00000646104.1:c.*2160A>G (TBCE) | ENSP00000495475.1:n.*2160A>G | |
| ENST00000646186.1:c.*1364A>G (TBCE) | ENSP00000493806.1:n.*1364A>G | |
| ENST00000646286.1:c.*1585A>G (TBCE) | ENSP00000494291.1:n.*1585A>G | |
| ENST00000646463.1:c.*1457A>G (TBCE) | ENSP00000494541.1:n.*1457A>G | |
| ENST00000646528.1:c.*2408A>G | ENSP00000496553.1:n.*2408A>G | |
| ENST00000646536.1:c.*986A>G (TBCE) | ENSP00000494801.1:n.*986A>G | |
| ENST00000646624.1:c.*108A>G | ENSP00000494575.1:n.*108A>G | |
| ENST00000646821.1:c.*982A>G (TBCE) | ENSP00000495257.1:n.*982A>G | |
| ENST00000647151.1:c.416A>G (TBCE) | ENSP00000495125.1:n.416A>G | |
| ENST00000647186.1:c.*108A>G | ENSP00000494775.1:n.*108A>G | |
| ENST00000647233.1:n.2672A>G (TBCE) | ||
| ENST00000647322.1:c.1283A>G (TBCE) | ||
| ENST00000647418.1:c.*1466A>G (TBCE) | ENSP00000493552.1:n.*1466A>G | |
| ENST00000647428.1:c.*108A>G | ENSP00000495630.1:n.*108A>G | |
| ENST00000651186.1:c.*108A>G (TBCE) | ENSP00000498645.1:n.*108A>G | |
| ENST00000675193.1:c.*1779T>C (B3GALNT2) | ENSP00000502069.1:n.*1779T>C | |
| ENST00000366601.7:c.*108A>G | ENSP00000355560.3:n.*108A>G | |
| ENST00000406207.4:c.*108A>G | ENSP00000384571.1:n.*108A>G | |
| ENST00000472011.5:n.1744A>G | ||
| ENST00000543662.3:c.*108A>G | ENSP00000439170.1:n.*108A>G | |
| NM_001079515.2:c.*108A>G (TBCE) | NP_001072983.1:n.*108A>G | |
| NM_001287801.1:c.*108A>G (TBCE) | NP_001274730.1:n.*108A>G | |
| NM_001287802.1:c.*108A>G (TBCE) | NP_001274731.1:n.*108A>G | |
| NM_003193.4:c.*108A>G (TBCE) | NP_003184.1:n.*108A>G | |
| NM_152490.4:c.*1336T>C (B3GALNT2) | NP_689703.1:n.*1336T>C | |
| XM_006711749.2:c.1469+1370T>C (B3GALNT2) | XP_006711812.1:n.1469+1370T>C | |
| XM_006711749.3:c.1469+1370T>C (B3GALNT2) | XP_006711812.1:n.1469+1370T>C | |
| XM_017000394.1:c.*1336T>C (B3GALNT2) | XP_016855883.1:n.*1336T>C | |
| XM_017000395.1:c.*1515T>C (B3GALNT2) | XP_016855884.1:n.*1515T>C | |
| XR_001736987.1:n.2943T>C (B3GALNT2) | ||
| XR_001736989.1:n.2864T>C (B3GALNT2) | ||
| XR_001736990.1:n.2826T>C (B3GALNT2) | ||
| NM_003193.5:c.*108A>G (TBCE) MANE Select | NP_003184.1:n.*108A>G | |
| NM_152490.5:c.*1336T>C (B3GALNT2) MANE Select | NP_689703.1:n.*1336T>C | |
| NM_001079515.3:c.*108A>G (TBCE) | NP_001072983.1:n.*108A>G | |
| NM_001287801.2:c.*108A>G (TBCE) | NP_001274730.1:n.*108A>G | |
| NM_001287802.2:c.*108A>G (TBCE) | NP_001274731.1:n.*108A>G |