UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
MyVariant Identifiers:
chr2:g.70439932C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.70212800C>G , CM000664.2:g.70212800C>G | GRCh38 |
| NC_000002.11:g.70439932C>G , CM000664.1:g.70439932C>G | GRCh37 |
| NC_000002.10:g.70293436C>G | NCBI36 |
| NG_029967.1:g.40848G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000433529.7:c.1080G>C (TIA1) MANE Select | ENSP00000401371.2:p.Val360= | |
| ENST00000282574.8:c.1077G>C (TIA1) | ENSP00000282574.4:p.Val359= | |
| ENST00000415783.6:c.1047G>C (TIA1) | ENSP00000404023.2:p.Val349= | |
| ENST00000433529.6:c.1080G>C (TIA1) | ENSP00000401371.2:p.Val360= | |
| ENST00000445587.5:c.777G>C (TIA1) | ENSP00000399567.1:p.Val259= | |
| ENST00000470096.1:n.212-30803G>C (C2orf42) | ||
| ENST00000486392.5:n.390G>C (TIA1) | ||
| ENST00000495774.1:n.482G>C (TIA1) | ||
| NM_022037.2:c.1047G>C (TIA1) | NP_071320.2:p.Val349= | |
| NM_022173.2:c.1080G>C (TIA1) | NP_071505.2:p.Val360= | |
| XM_005264527.1:c.1044G>C (TIA1) | XP_005264584.1:p.Val348= | |
| XM_005264528.3:c.885G>C (TIA1) | XP_005264585.1:p.Val295= | |
| XM_005264531.1:c.777G>C (TIA1) | XP_005264588.1:p.Val259= | |
| XM_011533077.1:c.1077G>C (TIA1) | XP_011531379.1:p.Val359= | |
| XM_011533078.1:c.780G>C (TIA1) | XP_011531380.1:p.Val260= | |
| XM_011533079.1:c.780G>C (TIA1) | XP_011531381.1:p.Val260= | |
| XM_011533080.1:c.780G>C (TIA1) | XP_011531382.1:p.Val260= | |
| XM_011533081.1:c.780G>C (TIA1) | XP_011531383.1:p.Val260= | |
| XM_011533082.1:c.780G>C (TIA1) | XP_011531384.1:p.Val260= | |
| XM_011533083.1:c.660G>C (TIA1) | XP_011531385.1:p.Val220= | |
| XR_244955.1:n.1437G>C (TIA1) | ||
| XR_939714.1:n.1416G>C (TIA1) | ||
| NM_001351508.1:c.1077G>C (TIA1) | NP_001338437.1:p.Val359= | |
| NM_001351509.1:c.1053G>C (TIA1) | NP_001338438.1:p.Val351= | |
| NM_001351510.1:c.1044G>C (TIA1) | NP_001338439.1:p.Val348= | |
| NM_001351511.1:c.969G>C (TIA1) | NP_001338440.1:p.Val323= | |
| NM_001351512.1:c.942G>C (TIA1) | NP_001338441.1:p.Val314= | |
| NM_001351513.1:c.936G>C (TIA1) | NP_001338442.1:p.Val312= | |
| NM_001351514.1:c.852G>C (TIA1) | NP_001338443.1:p.Val284= | |
| NM_001351515.1:c.777G>C (TIA1) | NP_001338444.1:p.Val259= | |
| NM_001351517.1:c.657G>C (TIA1) | NP_001338446.1:p.Val219= | |
| NM_001351524.1:c.660G>C (TIA1) | NP_001338453.1:p.Val220= | |
| NM_001351525.1:c.660G>C (TIA1) | NP_001338454.1:p.Val220= | |
| NM_022037.3:c.1047G>C (TIA1) | NP_071320.2:p.Val349= | |
| NM_022173.3:c.1080G>C (TIA1) | NP_071505.2:p.Val360= | |
| NR_147216.1:n.1437G>C (TIA1) | ||
| NR_147217.1:n.1318G>C (TIA1) | ||
| NR_147218.1:n.1315G>C (TIA1) | ||
| NR_147219.1:n.1552G>C (TIA1) | ||
| NR_147220.1:n.1538G>C (TIA1) | ||
| NR_147221.1:n.1609G>C (TIA1) | ||
| NR_147222.1:n.1604G>C (TIA1) | ||
| NR_147223.1:n.1662G>C (TIA1) | ||
| NR_147224.1:n.1540G>C (TIA1) | ||
| NR_147225.1:n.1695G>C (TIA1) | ||
| NR_147226.1:n.1543G>C (TIA1) | ||
| NR_147227.1:n.1613G>C (TIA1) | ||
| NR_147228.1:n.1576G>C (TIA1) | ||
| NR_147229.1:n.1519G>C (TIA1) | ||
| NR_147230.1:n.1761G>C (TIA1) | ||
| NR_147231.1:n.1573G>C (TIA1) | ||
| NR_147232.1:n.1446G>C (TIA1) | ||
| XM_005264528.5:c.885G>C (TIA1) | XP_005264585.1:p.Val295= | |
| XM_005264531.2:c.777G>C (TIA1) | XP_005264588.1:p.Val259= | |
| XM_011533082.2:c.780G>C (TIA1) | XP_011531384.1:p.Val260= | |
| XM_017004792.1:c.780G>C (TIA1) | XP_016860281.1:p.Val260= | |
| XM_017004793.2:c.780G>C (TIA1) | XP_016860282.1:p.Val260= | |
| XM_017004794.1:c.780G>C (TIA1) | XP_016860283.1:p.Val260= | |
| XM_017004795.1:c.777G>C (TIA1) | XP_016860284.1:p.Val259= | |
| XM_017004796.1:c.660G>C (TIA1) | XP_016860285.1:p.Val220= | |
| XM_017004800.1:c.660G>C (TIA1) | XP_016860289.1:p.Val220= | |
| XM_024453063.1:c.660G>C (TIA1) | XP_024308831.1:p.Val220= | |
| XM_024453064.1:c.660G>C (TIA1) | XP_024308832.1:p.Val220= | |
| XM_024453065.1:c.660G>C (TIA1) | XP_024308833.1:p.Val220= | |
| XM_024453066.1:c.660G>C (TIA1) | XP_024308834.1:p.Val220= | |
| XM_024453067.1:c.657G>C (TIA1) | XP_024308835.1:p.Val219= | |
| XR_002959329.1:n.4664G>C (TIA1) | ||
| XR_002959330.1:n.2498G>C (TIA1) | ||
| XR_002959331.1:n.4661G>C (TIA1) | ||
| XR_002959332.1:n.2204G>C (TIA1) | ||
| NM_022173.4:c.1080G>C (TIA1) MANE Select | NP_071505.2:p.Val360= | |
| NM_001351508.2:c.1077G>C (TIA1) | NP_001338437.1:p.Val359= | |
| NM_001351509.2:c.1053G>C (TIA1) | NP_001338438.1:p.Val351= | |
| NM_001351510.2:c.1044G>C (TIA1) | NP_001338439.1:p.Val348= | |
| NM_001351514.2:c.852G>C (TIA1) | NP_001338443.1:p.Val284= | |
| NM_001351515.2:c.777G>C (TIA1) | NP_001338444.1:p.Val259= | |
| NM_001351517.2:c.657G>C (TIA1) | NP_001338446.1:p.Val219= | |
| NM_001351524.2:c.660G>C (TIA1) | NP_001338453.1:p.Val220= | |
| NM_001351525.2:c.660G>C (TIA1) | NP_001338454.1:p.Val220= | |
| NM_022037.4:c.1047G>C (TIA1) | NP_071320.2:p.Val349= | |
| NR_147219.2:n.1387G>C (TIA1) | ||
| NR_147220.2:n.1373G>C (TIA1) | ||
| NR_147221.2:n.1444G>C (TIA1) | ||
| NR_147222.2:n.1439G>C (TIA1) | ||
| NR_147223.2:n.1497G>C (TIA1) | ||
| NR_147224.2:n.1375G>C (TIA1) | ||
| NR_147225.2:n.1530G>C (TIA1) | ||
| NR_147226.2:n.1378G>C (TIA1) | ||
| NR_147227.2:n.1448G>C (TIA1) | ||
| NR_147228.2:n.1411G>C (TIA1) | ||
| NR_147229.2:n.1354G>C (TIA1) | ||
| NR_147230.2:n.1596G>C (TIA1) | ||
| NR_147231.2:n.1408G>C (TIA1) | ||
| NR_147232.2:n.1281G>C (TIA1) |