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 |
|---|---|---|---|---|---|
| 12 | g.13567071A= | CA2017439056 | GRIN2B | c.2552T= (p.Met851=) c.69+41532T= (n.69+41532T=) n.812T= c.338T= (p.Met113=) | |
| 12 | g.13567071A>C | CA383996046 | GRIN2B | c.2552T>G (p.Met851Arg) c.69+41532T>G (n.69+41532T>G) n.812T>G c.338T>G (p.Met113Arg) | |
| 12 | g.13567071A>G | CA383996049 | GRIN2B | c.2552T>C (p.Met851Thr) c.69+41532T>C (n.69+41532T>C) n.812T>C c.338T>C (p.Met113Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.13567071A>T | CA383996048 | GRIN2B | c.2552T>A (p.Met851Lys) c.69+41532T>A (n.69+41532T>A) n.812T>A c.338T>A (p.Met113Lys) | |
| 12 | g.13567072T>A | CA383996050 | GRIN2B | c.2551A>T (p.Met851Leu) c.69+41531A>T (n.69+41531A>T) n.811A>T c.337A>T (p.Met113Leu) | ClinVar dbSNP gnomAD v4 |
| 12 | g.13567072T>C | CA383996052 | GRIN2B | c.2551A>G (p.Met851Val) c.69+41531A>G (n.69+41531A>G) n.811A>G c.337A>G (p.Met113Val) | dbSNP gnomAD v4 |
| 12 | g.13567072T>G | CA383996053 | GRIN2B | c.2551A>C (p.Met851Leu) c.69+41531A>C (n.69+41531A>C) n.811A>C c.337A>C (p.Met113Leu) | |
| 12 | g.13567072T= | CA2017439057 | GRIN2B | c.2551A= (p.Met851=) c.69+41531A= (n.69+41531A=) n.811A= c.337A= (p.Met113=) | |
| 12 | g.13567073A= | CA2017439058 | GRIN2B | c.2550T= (p.Phe850=) c.69+41530T= (n.69+41530T=) n.810T= c.336T= (p.Phe112=) | |
| 12 | g.13567073A>C | CA383996055 | GRIN2B | c.2550T>G (p.Phe850Leu) c.69+41530T>G (n.69+41530T>G) n.810T>G c.336T>G (p.Phe112Leu) | COSMIC |
| 12 | g.13567073A>G | CA478702587 | GRIN2B | c.2550T>C (p.Phe850=) c.69+41530T>C (n.69+41530T>C) n.810T>C c.336T>C (p.Phe112=) | ClinVar dbSNP |
| 12 | g.13567073A>T | CA383996057 | GRIN2B | c.2550T>A (p.Phe850Leu) c.69+41530T>A (n.69+41530T>A) n.810T>A c.336T>A (p.Phe112Leu) | |
| 12 | g.13567074A>C | CA383996058 | GRIN2B | c.2549T>G (p.Phe850Cys) c.69+41529T>G (n.69+41529T>G) n.809T>G c.335T>G (p.Phe112Cys) | |
| 12 | g.13567074A>G | CA383996060 | GRIN2B | c.2549T>C (p.Phe850Ser) c.69+41529T>C (n.69+41529T>C) n.809T>C c.335T>C (p.Phe112Ser) | |
| 12 | g.13567074A>T | CA383996061 | GRIN2B | c.2549T>A (p.Phe850Tyr) c.69+41529T>A (n.69+41529T>A) n.809T>A c.335T>A (p.Phe112Tyr) | |
| 12 | g.13567075A>C | CA383996063 | GRIN2B | c.2548T>G (p.Phe850Val) c.69+41528T>G (n.69+41528T>G) n.808T>G c.334T>G (p.Phe112Val) | |
| 12 | g.13567075A>G | CA383996065 | GRIN2B | c.2548T>C (p.Phe850Leu) c.69+41528T>C (n.69+41528T>C) n.808T>C c.334T>C (p.Phe112Leu) | gnomAD v4 |
| 12 | g.13567075A>T | CA383996066 | GRIN2B | c.2548T>A (p.Phe850Ile) c.69+41528T>A (n.69+41528T>A) n.808T>A c.334T>A (p.Phe112Ile) | |
| 12 | g.13567076G>A | CA478702595 | GRIN2B | c.2547C>T (p.Cys849=) c.69+41527C>T (n.69+41527C>T) n.807C>T c.333C>T (p.Cys111=) | |
| 12 | g.13567076G>C | CA383996068 | GRIN2B | c.2547C>G (p.Cys849Trp) c.69+41527C>G (n.69+41527C>G) n.807C>G c.333C>G (p.Cys111Trp) | dbSNP gnomAD v4 |
| 12 | g.13567076G= | CA2017439059 | GRIN2B | c.2547C= (p.Cys849=) c.69+41527C= (n.69+41527C=) n.807C= c.333C= (p.Cys111=) | |
| 12 | g.13567076G>T | CA383996067 | GRIN2B | c.2547C>A (p.Cys849Ter) c.69+41527C>A (n.69+41527C>A) n.807C>A c.333C>A (p.Cys111Ter) | dbSNP |
| 12 | g.13567077C>A | CA383996070 | GRIN2B | c.2546G>T (p.Cys849Phe) c.69+41526G>T (n.69+41526G>T) n.806G>T c.332G>T (p.Cys111Phe) | |
| 12 | g.13567077C= | CA2017439060 | GRIN2B | c.2546G= (p.Cys849=) c.69+41526G= (n.69+41526G=) n.806G= c.332G= (p.Cys111=) | |
| 12 | g.13567077C>G | CA383996072 | GRIN2B | c.2546G>C (p.Cys849Ser) c.69+41526G>C (n.69+41526G>C) n.806G>C c.332G>C (p.Cys111Ser) | |
| 12 | g.13567077C>T | CA383996074 | GRIN2B | c.2546G>A (p.Cys849Tyr) c.69+41526G>A (n.69+41526G>A) n.806G>A c.332G>A (p.Cys111Tyr) | dbSNP gnomAD v2 |
| 12 | g.13567078A>C | CA383996075 | GRIN2B | c.2545T>G (p.Cys849Gly) c.69+41525T>G (n.69+41525T>G) n.805T>G c.331T>G (p.Cys111Gly) | |
| 12 | g.13567078A>G | CA383996076 | GRIN2B | c.2545T>C (p.Cys849Arg) c.69+41525T>C (n.69+41525T>C) n.805T>C c.331T>C (p.Cys111Arg) | |
| 12 | g.13567078A>T | CA383996077 | GRIN2B | c.2545T>A (p.Cys849Ser) c.69+41525T>A (n.69+41525T>A) n.805T>A c.331T>A (p.Cys111Ser) | |
| 12 | g.13567079A= | CA2017439061 | GRIN2B | c.2544T= (p.His848=) c.69+41524T= (n.69+41524T=) n.804T= c.330T= (p.His110=) | |
| 12 | g.13567079A>C | CA383996079 | GRIN2B | c.2544T>G (p.His848Gln) c.69+41524T>G (n.69+41524T>G) n.804T>G c.330T>G (p.His110Gln) | |
| 12 | g.13567079A>G | CA478702605 | GRIN2B | c.2544T>C (p.His848=) c.69+41524T>C (n.69+41524T>C) n.804T>C c.330T>C (p.His110=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.13567079A>T | CA383996080 | GRIN2B | c.2544T>A (p.His848Gln) c.69+41524T>A (n.69+41524T>A) n.804T>A c.330T>A (p.His110Gln) | |
| 12 | g.13567080T>A | CA383996082 | GRIN2B | c.2543A>T (p.His848Leu) c.69+41523A>T (n.69+41523A>T) n.803A>T c.329A>T (p.His110Leu) | |
| 12 | g.13567080T>C | CA16621633 | GRIN2B | c.2543A>G (p.His848Arg) c.69+41523A>G (n.69+41523A>G) n.803A>G c.329A>G (p.His110Arg) | ClinVar dbSNP |
| 12 | g.13567080T>G | CA383996084 | GRIN2B | c.2543A>C (p.His848Pro) c.69+41523A>C (n.69+41523A>C) n.803A>C c.329A>C (p.His110Pro) | |
| 12 | g.13567080T= | CA2017439062 | GRIN2B | c.2543A= (p.His848=) c.69+41523A= (n.69+41523A=) n.803A= c.329A= (p.His110=) | |
| 12 | g.13567081G>A | CA383996086 | GRIN2B | c.2542C>T (p.His848Tyr) c.69+41522C>T (n.69+41522C>T) n.802C>T c.328C>T (p.His110Tyr) | ClinVar |
| 12 | g.13567081G>C | CA383996087 | GRIN2B | c.2542C>G (p.His848Asp) c.69+41522C>G (n.69+41522C>G) n.802C>G c.328C>G (p.His110Asp) | |
| 12 | g.13567081G>T | CA383996085 | GRIN2B | c.2542C>A (p.His848Asn) c.69+41522C>A (n.69+41522C>A) n.802C>A c.328C>A (p.His110Asn) | |
| 12 | g.13567082T>A | CA478702616 | GRIN2B | c.2541A>T (p.Arg847=) c.69+41521A>T (n.69+41521A>T) n.801A>T c.327A>T (p.Arg109=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.13567082T>C | CA478702613 | GRIN2B | c.2541A>G (p.Arg847=) c.69+41521A>G (n.69+41521A>G) n.801A>G c.327A>G (p.Arg109=) | |
| 12 | g.13567082T>G | CA478702614 | GRIN2B | c.2541A>C (p.Arg847=) c.69+41521A>C (n.69+41521A>C) n.801A>C c.327A>C (p.Arg109=) | |
| 12 | g.13567082T= | CA2017439063 | GRIN2B | c.2541A= (p.Arg847=) c.69+41521A= (n.69+41521A=) n.801A= c.327A= (p.Arg109=) | |
| 12 | g.13567083C>A | CA383996089 | GRIN2B | c.2540G>T (p.Arg847Leu) c.69+41520G>T (n.69+41520G>T) n.800G>T c.326G>T (p.Arg109Leu) | |
| 12 | g.13567083C= | CA2017439064 | GRIN2B | c.2540G= (p.Arg847=) c.69+41520G= (n.69+41520G=) n.800G= c.326G= (p.Arg109=) | |
| 12 | g.13567083C>G | CA383996091 | GRIN2B | c.2540G>C (p.Arg847Pro) c.69+41520G>C (n.69+41520G>C) n.800G>C c.326G>C (p.Arg109Pro) | |
| 12 | g.13567083C>T | CA383996092 | GRIN2B | c.2540G>A (p.Arg847Gln) c.69+41520G>A (n.69+41520G>A) n.800G>A c.326G>A (p.Arg109Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.13567083_13567084delinsTA | CA2695216119 | GRIN2B | c.2539_2540delinsTA (p.Arg847Ter) c.69+41519_69+41520delinsTA (n.69+41519_69+41520delinsTA) n.799_800delinsTA c.325_326delinsTA (p.Arg109Ter) | |
| 12 | g.13567084G>A | CA10584423 | GRIN2B | c.2539C>T (p.Arg847Ter) c.69+41519C>T (n.69+41519C>T) n.799C>T c.325C>T (p.Arg109Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |