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.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.9763108_9769129del | CA915949116 | GRIN2A | c.2357-40_*41del c.1886-40_*247del n.1950-40_3686del c.1886-40_*41del c.2357-4181_*1806del c.1946-40_4025del n.1996-40_3732del c.1946-40_*247del c.2357-40_*247del c.2198-40_*41del c.2099-40_*41del c.2513-40_*41del c.2513-40_*247del | ClinVar |
| 16 | g.9763139T>C | CA277535707 | GRIN2A | c.*10A>G (n.*10A>G) c.*216A>G (n.*216A>G) n.3655A>G c.*1775A>G (n.*1775A>G) c.3994A>G (n.3994A>G) n.3701A>G | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.9763139T= | CA2206692573 | GRIN2A | c.*10A= (n.*10A=) c.*216A= (n.*216A=) n.3655A= c.*1775A= (n.*1775A=) c.3994A= (n.3994A=) n.3701A= | |
| 16 | g.9763140G>A | CA7896162 | GRIN2A | c.*9C>T (n.*9C>T) c.*215C>T (n.*215C>T) n.3654C>T c.*1774C>T (n.*1774C>T) c.3993C>T (n.3993C>T) n.3700C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.9763140G= | CA2206692574 | GRIN2A | c.*9C= (n.*9C=) c.*215C= (n.*215C=) n.3654C= c.*1774C= (n.*1774C=) c.3993C= (n.3993C=) n.3700C= | |
| 16 | g.9763141G>C | CA725879263 | GRIN2A | c.*8C>G (n.*8C>G) c.*214C>G (n.*214C>G) n.3653C>G c.*1773C>G (n.*1773C>G) c.3992C>G (n.3992C>G) n.3699C>G | dbSNP |
| 16 | g.9763141G= | CA2206692575 | GRIN2A | c.*8C= (n.*8C=) c.*214C= (n.*214C=) n.3653C= c.*1773C= (n.*1773C=) c.3992C= (n.3992C=) n.3699C= | |
| 16 | g.9763142A>G | CA2513963309 | GRIN2A | c.*7T>C (n.*7T>C) c.*213T>C (n.*213T>C) n.3652T>C c.*1772T>C (n.*1772T>C) c.3991T>C (n.3991T>C) n.3698T>C | gnomAD v4 |
| 16 | g.9763143A>C | CA2575908347 | GRIN2A | c.*6T>G (n.*6T>G) c.*212T>G (n.*212T>G) n.3651T>G c.*1771T>G (n.*1771T>G) c.3990T>G (n.3990T>G) n.3697T>G | gnomAD v4 |
| 16 | g.9763144G= | CA2206692576 | GRIN2A | c.*5C= (n.*5C=) c.*211C= (n.*211C=) n.3650C= c.*1770C= (n.*1770C=) c.3989C= (n.3989C=) n.3696C= | |
| 16 | g.9763144G>T | CA7896163 | GRIN2A | c.*5C>A (n.*5C>A) c.*211C>A (n.*211C>A) n.3650C>A c.*1770C>A (n.*1770C>A) c.3989C>A (n.3989C>A) n.3696C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.9763145A= | CA2206692577 | GRIN2A | c.*4T= (n.*4T=) c.*210T= (n.*210T=) n.3649T= c.*1769T= (n.*1769T=) c.3988T= (n.3988T=) n.3695T= | |
| 16 | g.9763145A>G | CA974531375 | GRIN2A | c.*4T>C (n.*4T>C) c.*210T>C (n.*210T>C) n.3649T>C c.*1769T>C (n.*1769T>C) c.3988T>C (n.3988T>C) n.3695T>C | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.9763145A>T | CA2631674826 | GRIN2A | c.*4T>A (n.*4T>A) c.*210T>A (n.*210T>A) n.3649T>A c.*1769T>A (n.*1769T>A) c.3988T>A (n.3988T>A) n.3695T>A | gnomAD v4 |
| 16 | g.9763150dup | CA656758517 | GRIN2A | c.*3dup (n.*3dup) c.*209dup (n.*209dup) n.3648dup c.*1768dup (n.*1768dup) c.3987dup (n.3987dup) n.3694dup | COSMIC |
| 16 | g.9763147T>A | CA2206692579 | GRIN2A | c.*2A>T (n.*2A>T) c.*208A>T (n.*208A>T) n.3647A>T c.*1767A>T (n.*1767A>T) c.3986A>T (n.3986A>T) n.3693A>T | dbSNP |
| 16 | g.9763147T= | CA2206692578 | GRIN2A | c.*2A= (n.*2A=) c.*208A= (n.*208A=) n.3647A= c.*1767A= (n.*1767A=) c.3986A= (n.3986A=) n.3693A= | |
| 16 | g.9763149T>A | CA394705002 | GRIN2A | c.4395A>T (p.Ter1465Tyr) c.*206A>T (n.*206A>T) n.3645A>T c.3924A>T (p.Ter1308Tyr) c.*1765A>T (n.*1765A>T) c.3984A>T (p.Ter1328Tyr) n.3691A>T c.4236A>T (p.Ter1412Tyr) c.4137A>T (p.Ter1379Tyr) c.4551A>T (p.Ter1517Tyr) | |
| 16 | g.9763149T>C | CA493692379 | GRIN2A | c.4395A>G (p.Ter1465=) c.*206A>G (n.*206A>G) n.3645A>G c.3924A>G (p.Ter1308=) c.*1765A>G (n.*1765A>G) c.3984A>G (p.Ter1328=) n.3691A>G c.4236A>G (p.Ter1412=) c.4137A>G (p.Ter1379=) c.4551A>G (p.Ter1517=) | |
| 16 | g.9763149T>G | CA394705003 | GRIN2A | c.4395A>C (p.Ter1465Tyr) c.*206A>C (n.*206A>C) n.3645A>C c.3924A>C (p.Ter1308Tyr) c.*1765A>C (n.*1765A>C) c.3984A>C (p.Ter1328Tyr) n.3691A>C c.4236A>C (p.Ter1412Tyr) c.4137A>C (p.Ter1379Tyr) c.4551A>C (p.Ter1517Tyr) | |
| 16 | g.9763150T>A | CA394705004 | GRIN2A | c.4394A>T (p.Ter1465Leu) c.*205A>T (n.*205A>T) n.3644A>T c.3923A>T (p.Ter1308Leu) c.*1764A>T (n.*1764A>T) c.3983A>T (p.Ter1328Leu) n.3690A>T c.4235A>T (p.Ter1412Leu) c.4136A>T (p.Ter1379Leu) c.4550A>T (p.Ter1517Leu) | |
| 16 | g.9763150T>C | CA493692380 | GRIN2A | c.4394A>G (p.Ter1465=) c.*205A>G (n.*205A>G) n.3644A>G c.3923A>G (p.Ter1308=) c.*1764A>G (n.*1764A>G) c.3983A>G (p.Ter1328=) n.3690A>G c.4235A>G (p.Ter1412=) c.4136A>G (p.Ter1379=) c.4550A>G (p.Ter1517=) | |
| 16 | g.9763150T>G | CA394705005 | GRIN2A | c.4394A>C (p.Ter1465Ser) c.*205A>C (n.*205A>C) n.3644A>C c.3923A>C (p.Ter1308Ser) c.*1764A>C (n.*1764A>C) c.3983A>C (p.Ter1328Ser) n.3690A>C c.4235A>C (p.Ter1412Ser) c.4136A>C (p.Ter1379Ser) c.4550A>C (p.Ter1517Ser) | |
| 16 | g.9763151A>C | CA394705006 | GRIN2A | c.4393T>G (p.Ter1465Glu) c.*204T>G (n.*204T>G) n.3643T>G c.3922T>G (p.Ter1308Glu) c.*1763T>G (n.*1763T>G) c.3982T>G (p.Ter1328Glu) n.3689T>G c.4234T>G (p.Ter1412Glu) c.4135T>G (p.Ter1379Glu) c.4549T>G (p.Ter1517Glu) | |
| 16 | g.9763151A>G | CA394705007 | GRIN2A | c.4393T>C (p.Ter1465Gln) c.*204T>C (n.*204T>C) n.3643T>C c.3922T>C (p.Ter1308Gln) c.*1763T>C (n.*1763T>C) c.3982T>C (p.Ter1328Gln) n.3689T>C c.4234T>C (p.Ter1412Gln) c.4135T>C (p.Ter1379Gln) c.4549T>C (p.Ter1517Gln) | |
| 16 | g.9763151A>T | CA394705008 | GRIN2A | c.4393T>A (p.Ter1465Lys) c.*204T>A (n.*204T>A) n.3643T>A c.3922T>A (p.Ter1308Lys) c.*1763T>A (n.*1763T>A) c.3982T>A (p.Ter1328Lys) n.3689T>A c.4234T>A (p.Ter1412Lys) c.4135T>A (p.Ter1379Lys) c.4549T>A (p.Ter1517Lys) | COSMIC |
| 16 | g.9763153del | CA2573152111 | GRIN2A | c.4393del (p.Ter1465LysextTer10) c.*204del (n.*204del) n.3643del c.3922del (p.Ter1308LysextTer10) c.*1763del (n.*1763del) c.3982del (p.Ter1328LysextTer10) n.3689del c.4234del (p.Ter1412LysextTer10) c.4135del (p.Ter1379LysextTer10) c.4549del (p.Ter1517LysextTer10) | ClinVar dbSNP |
| 16 | g.9763152A>C | CA493692382 | GRIN2A | c.4392T>G (p.Val1464=) c.*203T>G (n.*203T>G) n.3642T>G c.3921T>G (p.Val1307=) c.*1762T>G (n.*1762T>G) c.3981T>G (p.Val1327=) n.3688T>G c.4233T>G (p.Val1411=) c.4134T>G (p.Val1378=) c.4548T>G (p.Val1516=) | |
| 16 | g.9763152A>G | CA493692383 | GRIN2A | c.4392T>C (p.Val1464=) c.*203T>C (n.*203T>C) n.3642T>C c.3921T>C (p.Val1307=) c.*1762T>C (n.*1762T>C) c.3981T>C (p.Val1327=) n.3688T>C c.4233T>C (p.Val1411=) c.4134T>C (p.Val1378=) c.4548T>C (p.Val1516=) | |
| 16 | g.9763152A>T | CA493692385 | GRIN2A | c.4392T>A (p.Val1464=) c.*203T>A (n.*203T>A) n.3642T>A c.3921T>A (p.Val1307=) c.*1762T>A (n.*1762T>A) c.3981T>A (p.Val1327=) n.3688T>A c.4233T>A (p.Val1411=) c.4134T>A (p.Val1378=) c.4548T>A (p.Val1516=) | |
| 16 | g.9763153A>C | CA394705009 | GRIN2A | c.4391T>G (p.Val1464Gly) c.*202T>G (n.*202T>G) n.3641T>G c.3920T>G (p.Val1307Gly) c.*1761T>G (n.*1761T>G) c.3980T>G (p.Val1327Gly) n.3687T>G c.4232T>G (p.Val1411Gly) c.4133T>G (p.Val1378Gly) c.4547T>G (p.Val1516Gly) | |
| 16 | g.9763153A>G | CA394705011 | GRIN2A | c.4391T>C (p.Val1464Ala) c.*202T>C (n.*202T>C) n.3641T>C c.3920T>C (p.Val1307Ala) c.*1761T>C (n.*1761T>C) c.3980T>C (p.Val1327Ala) n.3687T>C c.4232T>C (p.Val1411Ala) c.4133T>C (p.Val1378Ala) c.4547T>C (p.Val1516Ala) | |
| 16 | g.9763153A>T | CA394705010 | GRIN2A | c.4391T>A (p.Val1464Asp) c.*202T>A (n.*202T>A) n.3641T>A c.3920T>A (p.Val1307Asp) c.*1761T>A (n.*1761T>A) c.3980T>A (p.Val1327Asp) n.3687T>A c.4232T>A (p.Val1411Asp) c.4133T>A (p.Val1378Asp) c.4547T>A (p.Val1516Asp) | |
| 16 | g.9763154C>A | CA394705012 | GRIN2A | c.4390G>T (p.Val1464Phe) c.*201G>T (n.*201G>T) n.3640G>T c.3919G>T (p.Val1307Phe) c.*1760G>T (n.*1760G>T) c.3979G>T (p.Val1327Phe) n.3686G>T c.4231G>T (p.Val1411Phe) c.4132G>T (p.Val1378Phe) c.4546G>T (p.Val1516Phe) | |
| 16 | g.9763154C>G | CA394705014 | GRIN2A | c.4390G>C (p.Val1464Leu) c.*201G>C (n.*201G>C) n.3640G>C c.3919G>C (p.Val1307Leu) c.*1760G>C (n.*1760G>C) c.3979G>C (p.Val1327Leu) n.3686G>C c.4231G>C (p.Val1411Leu) c.4132G>C (p.Val1378Leu) c.4546G>C (p.Val1516Leu) | gnomAD v4 |
| 16 | g.9763154C>T | CA394705013 | GRIN2A | c.4390G>A (p.Val1464Ile) c.*201G>A (n.*201G>A) n.3640G>A c.3919G>A (p.Val1307Ile) c.*1760G>A (n.*1760G>A) c.3979G>A (p.Val1327Ile) n.3686G>A c.4231G>A (p.Val1411Ile) c.4132G>A (p.Val1378Ile) c.4546G>A (p.Val1516Ile) | |
| 16 | g.9763155A= | CA2206692580 | GRIN2A | c.4389T= (p.Asp1463=) c.*200T= (n.*200T=) n.3639T= c.3918T= (p.Asp1306=) c.*1759T= (n.*1759T=) c.3978T= (p.Asp1326=) n.3685T= c.4230T= (p.Asp1410=) c.4131T= (p.Asp1377=) c.4545T= (p.Asp1515=) | |
| 16 | g.9763155A>C | CA7896164 | GRIN2A | c.4389T>G (p.Asp1463Glu) c.*200T>G (n.*200T>G) n.3639T>G c.3918T>G (p.Asp1306Glu) c.*1759T>G (n.*1759T>G) c.3978T>G (p.Asp1326Glu) n.3685T>G c.4230T>G (p.Asp1410Glu) c.4131T>G (p.Asp1377Glu) c.4545T>G (p.Asp1515Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.9763155A>G | CA493692387 | GRIN2A | c.4389T>C (p.Asp1463=) c.*200T>C (n.*200T>C) n.3639T>C c.3918T>C (p.Asp1306=) c.*1759T>C (n.*1759T>C) c.3978T>C (p.Asp1326=) n.3685T>C c.4230T>C (p.Asp1410=) c.4131T>C (p.Asp1377=) c.4545T>C (p.Asp1515=) | gnomAD v4 |
| 16 | g.9763155A>T | CA394705015 | GRIN2A | c.4389T>A (p.Asp1463Glu) c.*200T>A (n.*200T>A) n.3639T>A c.3918T>A (p.Asp1306Glu) c.*1759T>A (n.*1759T>A) c.3978T>A (p.Asp1326Glu) n.3685T>A c.4230T>A (p.Asp1410Glu) c.4131T>A (p.Asp1377Glu) c.4545T>A (p.Asp1515Glu) | |
| 16 | g.9763156T>A | CA394705016 | GRIN2A | c.4388A>T (p.Asp1463Val) c.*199A>T (n.*199A>T) n.3638A>T c.3917A>T (p.Asp1306Val) c.*1758A>T (n.*1758A>T) c.3977A>T (p.Asp1326Val) n.3684A>T c.4229A>T (p.Asp1410Val) c.4130A>T (p.Asp1377Val) c.4544A>T (p.Asp1515Val) | gnomAD v4 |
| 16 | g.9763156T>C | CA394705017 | GRIN2A | c.4388A>G (p.Asp1463Gly) c.*199A>G (n.*199A>G) n.3638A>G c.3917A>G (p.Asp1306Gly) c.*1758A>G (n.*1758A>G) c.3977A>G (p.Asp1326Gly) n.3684A>G c.4229A>G (p.Asp1410Gly) c.4130A>G (p.Asp1377Gly) c.4544A>G (p.Asp1515Gly) | |
| 16 | g.9763156T>G | CA394705018 | GRIN2A | c.4388A>C (p.Asp1463Ala) c.*199A>C (n.*199A>C) n.3638A>C c.3917A>C (p.Asp1306Ala) c.*1758A>C (n.*1758A>C) c.3977A>C (p.Asp1326Ala) n.3684A>C c.4229A>C (p.Asp1410Ala) c.4130A>C (p.Asp1377Ala) c.4544A>C (p.Asp1515Ala) | |
| 16 | g.9763157C>A | CA394705019 | GRIN2A | c.4387G>T (p.Asp1463Tyr) c.*198G>T (n.*198G>T) n.3637G>T c.3916G>T (p.Asp1306Tyr) c.*1757G>T (n.*1757G>T) c.3976G>T (p.Asp1326Tyr) n.3683G>T c.4228G>T (p.Asp1410Tyr) c.4129G>T (p.Asp1377Tyr) c.4543G>T (p.Asp1515Tyr) | |
| 16 | g.9763157C>G | CA394705020 | GRIN2A | c.4387G>C (p.Asp1463His) c.*198G>C (n.*198G>C) n.3637G>C c.3916G>C (p.Asp1306His) c.*1757G>C (n.*1757G>C) c.3976G>C (p.Asp1326His) n.3683G>C c.4228G>C (p.Asp1410His) c.4129G>C (p.Asp1377His) c.4543G>C (p.Asp1515His) | |
| 16 | g.9763157C>T | CA394705021 | GRIN2A | c.4387G>A (p.Asp1463Asn) c.*198G>A (n.*198G>A) n.3637G>A c.3916G>A (p.Asp1306Asn) c.*1757G>A (n.*1757G>A) c.3976G>A (p.Asp1326Asn) n.3683G>A c.4228G>A (p.Asp1410Asn) c.4129G>A (p.Asp1377Asn) c.4543G>A (p.Asp1515Asn) | |
| 16 | g.9763158A>C | CA493692391 | GRIN2A | c.4386T>G (p.Ser1462=) c.*197T>G (n.*197T>G) n.3636T>G c.3915T>G (p.Ser1305=) c.*1756T>G (n.*1756T>G) c.3975T>G (p.Ser1325=) n.3682T>G c.4227T>G (p.Ser1409=) c.4128T>G (p.Ser1376=) c.4542T>G (p.Ser1514=) | |
| 16 | g.9763158A>G | CA493692390 | GRIN2A | c.4386T>C (p.Ser1462=) c.*197T>C (n.*197T>C) n.3636T>C c.3915T>C (p.Ser1305=) c.*1756T>C (n.*1756T>C) c.3975T>C (p.Ser1325=) n.3682T>C c.4227T>C (p.Ser1409=) c.4128T>C (p.Ser1376=) c.4542T>C (p.Ser1514=) | |
| 16 | g.9763158A>T | CA493692389 | GRIN2A | c.4386T>A (p.Ser1462=) c.*197T>A (n.*197T>A) n.3636T>A c.3915T>A (p.Ser1305=) c.*1756T>A (n.*1756T>A) c.3975T>A (p.Ser1325=) n.3682T>A c.4227T>A (p.Ser1409=) c.4128T>A (p.Ser1376=) c.4542T>A (p.Ser1514=) | |
| 16 | g.9763159G>A | CA394705022 | GRIN2A | c.4385C>T (p.Ser1462Phe) c.*196C>T (n.*196C>T) n.3635C>T c.3914C>T (p.Ser1305Phe) c.*1755C>T (n.*1755C>T) c.3974C>T (p.Ser1325Phe) n.3681C>T c.4226C>T (p.Ser1409Phe) c.4127C>T (p.Ser1376Phe) c.4541C>T (p.Ser1514Phe) | COSMIC |