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.13563025A= | CA2017438020 | GRIN2B | c.4213T= (p.Phe1405=) c.69+45578T= (n.69+45578T=) n.2473T= c.1999T= (p.Phe667=) | |
| 12 | g.13563025A>C | CA6460769 | GRIN2B | c.4213T>G (p.Phe1405Val) c.69+45578T>G (n.69+45578T>G) n.2473T>G c.1999T>G (p.Phe667Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.13563025A>G | CA383986006 | GRIN2B | c.4213T>C (p.Phe1405Leu) c.69+45578T>C (n.69+45578T>C) n.2473T>C c.1999T>C (p.Phe667Leu) | |
| 12 | g.13563025A>T | CA383986007 | GRIN2B | c.4213T>A (p.Phe1405Ile) c.69+45578T>A (n.69+45578T>A) n.2473T>A c.1999T>A (p.Phe667Ile) | |
| 12 | g.13563026G>A | CA478847857 | GRIN2B | c.4212C>T (p.Tyr1404=) c.69+45577C>T (n.69+45577C>T) n.2472C>T c.1998C>T (p.Tyr666=) | |
| 12 | g.13563026G>C | CA383986009 | GRIN2B | c.4212C>G (p.Tyr1404Ter) c.69+45577C>G (n.69+45577C>G) n.2472C>G c.1998C>G (p.Tyr666Ter) | |
| 12 | g.13563026G>T | CA383986011 | GRIN2B | c.4212C>A (p.Tyr1404Ter) c.69+45577C>A (n.69+45577C>A) n.2472C>A c.1998C>A (p.Tyr666Ter) | gnomAD v4 |
| 12 | g.13563027T>A | CA383986014 | GRIN2B | c.4211A>T (p.Tyr1404Phe) c.69+45576A>T (n.69+45576A>T) n.2471A>T c.1997A>T (p.Tyr666Phe) | gnomAD v4 |
| 12 | g.13563027T>C | CA383986016 | GRIN2B | c.4211A>G (p.Tyr1404Cys) c.69+45576A>G (n.69+45576A>G) n.2471A>G c.1997A>G (p.Tyr666Cys) | gnomAD v4 |
| 12 | g.13563027T>G | CA383986020 | GRIN2B | c.4211A>C (p.Tyr1404Ser) c.69+45576A>C (n.69+45576A>C) n.2471A>C c.1997A>C (p.Tyr666Ser) | |
| 12 | g.13563028A>C | CA383986023 | GRIN2B | c.4210T>G (p.Tyr1404Asp) c.69+45575T>G (n.69+45575T>G) n.2470T>G c.1996T>G (p.Tyr666Asp) | |
| 12 | g.13563028A>G | CA383986024 | GRIN2B | c.4210T>C (p.Tyr1404His) c.69+45575T>C (n.69+45575T>C) n.2470T>C c.1996T>C (p.Tyr666His) | |
| 12 | g.13563028A>T | CA383986025 | GRIN2B | c.4210T>A (p.Tyr1404Asn) c.69+45575T>A (n.69+45575T>A) n.2470T>A c.1996T>A (p.Tyr666Asn) | gnomAD v4 |
| 12 | g.13563029G>A | CA478847861 | GRIN2B | c.4209C>T (p.Ser1403=) c.69+45574C>T (n.69+45574C>T) n.2469C>T c.1995C>T (p.Ser665=) | gnomAD v4 |
| 12 | g.13563029G>C | CA478847863 | GRIN2B | c.4209C>G (p.Ser1403=) c.69+45574C>G (n.69+45574C>G) n.2469C>G c.1995C>G (p.Ser665=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.13563029G= | CA2017438021 | GRIN2B | c.4209C= (p.Ser1403=) c.69+45574C= (n.69+45574C=) n.2469C= c.1995C= (p.Ser665=) | |
| 12 | g.13563029G>T | CA478847864 | GRIN2B | c.4209C>A (p.Ser1403=) c.69+45574C>A (n.69+45574C>A) n.2469C>A c.1995C>A (p.Ser665=) | |
| 12 | g.13563030G>A | CA383986030 | GRIN2B | c.4208C>T (p.Ser1403Phe) c.69+45573C>T (n.69+45573C>T) n.2468C>T c.1994C>T (p.Ser665Phe) | ClinVar dbSNP COSMIC |
| 12 | g.13563030G>C | CA383986032 | GRIN2B | c.4208C>G (p.Ser1403Cys) c.69+45573C>G (n.69+45573C>G) n.2468C>G c.1994C>G (p.Ser665Cys) | ClinVar |
| 12 | g.13563030G= | CA2017414526 | GRIN2B | c.4208C= (p.Ser1403=) c.69+45573C= (n.69+45573C=) n.2468C= c.1994C= (p.Ser665=) | |
| 12 | g.13563030G>T | CA383986027 | GRIN2B | c.4208C>A (p.Ser1403Tyr) c.69+45573C>A (n.69+45573C>A) n.2468C>A c.1994C>A (p.Ser665Tyr) | |
| 12 | g.13563030_13563031insGAAAAGCTACCTTTGTGCTCACATAGCCTCTTTTTGGTTCTCCCAGCTTCACTC | CA2617718748 | GRIN2B | c.4207_4208insGAGTGAAGCTGGGAGAACCAAAAAGAGGCTATGTGAGCACAAAGGTAGCTTTTC (p.Ser1403Ter) c.69+45572_69+45573insGAGTGAAGCTGGGAGAACCAAAAAGAGGCTATGTGAGCACAAAGGTAGCTTTTC (n.69+45572_69+45573insGAGTGAAGCTGGGAGAACCAAAAAGAGGCTATGTGAGCACAAAGGTAGCTTTTC) n.2467_2468insGAGTGAAGCTGGGAGAACCAAAAAGAGGCTATGTGAGCACAAAGGTAGCTTTTC c.1993_1994insGAGTGAAGCTGGGAGAACCAAAAAGAGGCTATGTGAGCACAAAGGTAGCTTTTC (p.Ser665Ter) | gnomAD v4 |
| 12 | g.13563031A>C | CA383986036 | GRIN2B | c.4207T>G (p.Ser1403Ala) c.69+45572T>G (n.69+45572T>G) n.2467T>G c.1993T>G (p.Ser665Ala) | |
| 12 | g.13563031A>G | CA383986037 | GRIN2B | c.4207T>C (p.Ser1403Pro) c.69+45572T>C (n.69+45572T>C) n.2467T>C c.1993T>C (p.Ser665Pro) | |
| 12 | g.13563031A>T | CA383986039 | GRIN2B | c.4207T>A (p.Ser1403Thr) c.69+45572T>A (n.69+45572T>A) n.2467T>A c.1993T>A (p.Ser665Thr) | |
| 12 | g.13563032T>A | CA383986040 | GRIN2B | c.4206A>T (p.Lys1402Asn) c.69+45571A>T (n.69+45571A>T) n.2466A>T c.1992A>T (p.Lys664Asn) | dbSNP |
| 12 | g.13563032T>C | CA478847866 | GRIN2B | c.4206A>G (p.Lys1402=) c.69+45571A>G (n.69+45571A>G) n.2466A>G c.1992A>G (p.Lys664=) | |
| 12 | g.13563032T>G | CA383986043 | GRIN2B | c.4206A>C (p.Lys1402Asn) c.69+45571A>C (n.69+45571A>C) n.2466A>C c.1992A>C (p.Lys664Asn) | ClinVar |
| 12 | g.13563032T= | CA2017414567 | GRIN2B | c.4206A= (p.Lys1402=) c.69+45571A= (n.69+45571A=) n.2466A= c.1992A= (p.Lys664=) | |
| 12 | g.13563033T>A | CA383986048 | GRIN2B | c.4205A>T (p.Lys1402Ile) c.69+45570A>T (n.69+45570A>T) n.2465A>T c.1991A>T (p.Lys664Ile) | |
| 12 | g.13563033T>C | CA383986051 | GRIN2B | c.4205A>G (p.Lys1402Arg) c.69+45570A>G (n.69+45570A>G) n.2465A>G c.1991A>G (p.Lys664Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.13563033T>G | CA383986060 | GRIN2B | c.4205A>C (p.Lys1402Thr) c.69+45570A>C (n.69+45570A>C) n.2465A>C c.1991A>C (p.Lys664Thr) | ClinVar |
| 12 | g.13563033T= | CA2017414573 | GRIN2B | c.4205A= (p.Lys1402=) c.69+45570A= (n.69+45570A=) n.2465A= c.1991A= (p.Lys664=) | |
| 12 | g.13563034T>A | CA383986062 | GRIN2B | c.4204A>T (p.Lys1402Ter) c.69+45569A>T (n.69+45569A>T) n.2464A>T c.1990A>T (p.Lys664Ter) | dbSNP |
| 12 | g.13563034T>C | CA383986064 | GRIN2B | c.4204A>G (p.Lys1402Glu) c.69+45569A>G (n.69+45569A>G) n.2464A>G c.1990A>G (p.Lys664Glu) | |
| 12 | g.13563034T>G | CA383986066 | GRIN2B | c.4204A>C (p.Lys1402Gln) c.69+45569A>C (n.69+45569A>C) n.2464A>C c.1990A>C (p.Lys664Gln) | |
| 12 | g.13563034T= | CA2017414579 | GRIN2B | c.4204A= (p.Lys1402=) c.69+45569A= (n.69+45569A=) n.2464A= c.1990A= (p.Lys664=) | |
| 12 | g.13563035G>A | CA478847867 | GRIN2B | c.4203C>T (p.Ser1401=) c.69+45568C>T (n.69+45568C>T) n.2463C>T c.1989C>T (p.Ser663=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.13563035G>C | CA383986068 | GRIN2B | c.4203C>G (p.Ser1401Arg) c.69+45568C>G (n.69+45568C>G) n.2463C>G c.1989C>G (p.Ser663Arg) | dbSNP gnomAD v4 |
| 12 | g.13563035G= | CA2017414592 | GRIN2B | c.4203C= (p.Ser1401=) c.69+45568C= (n.69+45568C=) n.2463C= c.1989C= (p.Ser663=) | |
| 12 | g.13563035G>T | CA6460770 | GRIN2B | c.4203C>A (p.Ser1401Arg) c.69+45568C>A (n.69+45568C>A) n.2463C>A c.1989C>A (p.Ser663Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.13563036C>A | CA383986072 | GRIN2B | c.4202G>T (p.Ser1401Ile) c.69+45567G>T (n.69+45567G>T) n.2462G>T c.1988G>T (p.Ser663Ile) | |
| 12 | g.13563036C>G | CA383986070 | GRIN2B | c.4202G>C (p.Ser1401Thr) c.69+45567G>C (n.69+45567G>C) n.2462G>C c.1988G>C (p.Ser663Thr) | |
| 12 | g.13563036C>T | CA383986071 | GRIN2B | c.4202G>A (p.Ser1401Asn) c.69+45567G>A (n.69+45567G>A) n.2462G>A c.1988G>A (p.Ser663Asn) | gnomAD v4 |
| 12 | g.13563037T>A | CA383986073 | GRIN2B | c.4201A>T (p.Ser1401Cys) c.69+45566A>T (n.69+45566A>T) n.2461A>T c.1987A>T (p.Ser663Cys) | |
| 12 | g.13563037T>C | CA383986075 | GRIN2B | c.4201A>G (p.Ser1401Gly) c.69+45566A>G (n.69+45566A>G) n.2461A>G c.1987A>G (p.Ser663Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.13563037T>G | CA383986080 | GRIN2B | c.4201A>C (p.Ser1401Arg) c.69+45566A>C (n.69+45566A>C) n.2461A>C c.1987A>C (p.Ser663Arg) | |
| 12 | g.13563037T= | CA2017414599 | GRIN2B | c.4201A= (p.Ser1401=) c.69+45566A= (n.69+45566A=) n.2461A= c.1987A= (p.Ser663=) | |
| 12 | g.13563038G>A | CA478847868 | GRIN2B | c.4200C>T (p.Gly1400=) c.69+45565C>T (n.69+45565C>T) n.2460C>T c.1986C>T (p.Gly662=) | |
| 12 | g.13563038G>C | CA478847870 | GRIN2B | c.4200C>G (p.Gly1400=) c.69+45565C>G (n.69+45565C>G) n.2460C>G c.1986C>G (p.Gly662=) |