WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.13569921G>A | CA478703894 | GRIN2B | c.2268C>T (p.Val756=) n.528C>T c.69+38682C>T (n.69+38682C>T) c.54C>T (p.Val18=) | |
| 12 | g.13569921G>C | CA478703896 | GRIN2B | c.2268C>G (p.Val756=) n.528C>G c.69+38682C>G (n.69+38682C>G) c.54C>G (p.Val18=) | |
| 12 | g.13569921G>T | CA478703897 | GRIN2B | c.2268C>A (p.Val756=) n.528C>A c.69+38682C>A (n.69+38682C>A) c.54C>A (p.Val18=) | gnomAD v4 |
| 12 | g.13569922A= | CA2017440461 | GRIN2B | c.2267T= (p.Val756=) n.527T= c.69+38681T= (n.69+38681T=) c.53T= (p.Val18=) | |
| 12 | g.13569922A>C | CA383998153 | GRIN2B | c.2267T>G (p.Val756Gly) n.527T>G c.69+38681T>G (n.69+38681T>G) c.53T>G (p.Val18Gly) | dbSNP |
| 12 | g.13569922A>G | CA383998154 | GRIN2B | c.2267T>C (p.Val756Ala) n.527T>C c.69+38681T>C (n.69+38681T>C) c.53T>C (p.Val18Ala) | |
| 12 | g.13569922A>T | CA383998155 | GRIN2B | c.2267T>A (p.Val756Asp) n.527T>A c.69+38681T>A (n.69+38681T>A) c.53T>A (p.Val18Asp) | |
| 12 | g.13569923C>A | CA383998156 | GRIN2B | c.2266G>T (p.Val756Phe) n.526G>T c.69+38680G>T (n.69+38680G>T) c.52G>T (p.Val18Phe) | |
| 12 | g.13569923C>G | CA383998157 | GRIN2B | c.2266G>C (p.Val756Leu) n.526G>C c.69+38680G>C (n.69+38680G>C) c.52G>C (p.Val18Leu) | |
| 12 | g.13569923C>T | CA383998158 | GRIN2B | c.2266G>A (p.Val756Ile) n.526G>A c.69+38680G>A (n.69+38680G>A) c.52G>A (p.Val18Ile) | |
| 12 | g.13569923_13569924insTTTG | CA2741231573 | GRIN2B | c.2265_2266insCAAA (p.Val756GlnfsTer?) n.525_526insCAAA c.69+38679_69+38680insCAAA (n.69+38679_69+38680insCAAA) c.51_52insCAAA (p.Val18GlnfsTer?) | |
| 12 | g.13569924C>A | CA383998159 | GRIN2B | c.2265G>T (p.Lys755Asn) n.525G>T c.69+38679G>T (n.69+38679G>T) c.51G>T (p.Lys17Asn) | |
| 12 | g.13569924C>G | CA383998160 | GRIN2B | c.2265G>C (p.Lys755Asn) n.525G>C c.69+38679G>C (n.69+38679G>C) c.51G>C (p.Lys17Asn) | |
| 12 | g.13569924C>T | CA478703898 | GRIN2B | c.2265G>A (p.Lys755=) n.525G>A c.69+38679G>A (n.69+38679G>A) c.51G>A (p.Lys17=) | |
| 12 | g.13569925T>A | CA383998161 | GRIN2B | c.2264A>T (p.Lys755Met) n.524A>T c.69+38678A>T (n.69+38678A>T) c.50A>T (p.Lys17Met) | |
| 12 | g.13569925T>C | CA383998162 | GRIN2B | c.2264A>G (p.Lys755Arg) n.524A>G c.69+38678A>G (n.69+38678A>G) c.50A>G (p.Lys17Arg) | |
| 12 | g.13569925T>G | CA383998163 | GRIN2B | c.2264A>C (p.Lys755Thr) n.524A>C c.69+38678A>C (n.69+38678A>C) c.50A>C (p.Lys17Thr) | dbSNP |
| 12 | g.13569925T= | CA2017440462 | GRIN2B | c.2264A= (p.Lys755=) n.524A= c.69+38678A= (n.69+38678A=) c.50A= (p.Lys17=) | |
| 12 | g.13569926T>A | CA383998164 | GRIN2B | c.2263A>T (p.Lys755Ter) n.523A>T c.69+38677A>T (n.69+38677A>T) c.49A>T (p.Lys17Ter) | dbSNP |
| 12 | g.13569926T>C | CA383998165 | GRIN2B | c.2263A>G (p.Lys755Glu) n.523A>G c.69+38677A>G (n.69+38677A>G) c.49A>G (p.Lys17Glu) | dbSNP |
| 12 | g.13569926T>G | CA383998166 | GRIN2B | c.2263A>C (p.Lys755Gln) n.523A>C c.69+38677A>C (n.69+38677A>C) c.49A>C (p.Lys17Gln) | |
| 12 | g.13569926T= | CA2017440463 | GRIN2B | c.2263A= (p.Lys755=) n.523A= c.69+38677A= (n.69+38677A=) c.49A= (p.Lys17=) | |
| 12 | g.13569927C>A | CA478703900 | GRIN2B | c.2262G>T (p.Gly754=) n.522G>T c.69+38676G>T (n.69+38676G>T) c.48G>T (p.Gly16=) | |
| 12 | g.13569927C>G | CA478703901 | GRIN2B | c.2262G>C (p.Gly754=) n.522G>C c.69+38676G>C (n.69+38676G>C) c.48G>C (p.Gly16=) | |
| 12 | g.13569927C>T | CA478703902 | GRIN2B | c.2262G>A (p.Gly754=) n.522G>A c.69+38676G>A (n.69+38676G>A) c.48G>A (p.Gly16=) | |
| 12 | g.13569929del | CA2741231574 | GRIN2B | c.2262del (p.Lys755ArgfsTer?) n.522del c.69+38676del (n.69+38676del) c.48del (p.Lys17ArgfsTer?) | |
| 12 | g.13569928C>A | CA383998167 | GRIN2B | c.2261G>T (p.Gly754Val) n.521G>T c.69+38675G>T (n.69+38675G>T) c.47G>T (p.Gly16Val) | |
| 12 | g.13569928C>G | CA383998168 | GRIN2B | c.2261G>C (p.Gly754Ala) n.521G>C c.69+38675G>C (n.69+38675G>C) c.47G>C (p.Gly16Ala) | |
| 12 | g.13569928C>T | CA383998169 | GRIN2B | c.2261G>A (p.Gly754Glu) n.521G>A c.69+38675G>A (n.69+38675G>A) c.47G>A (p.Gly16Glu) | |
| 12 | g.13569929C>A | CA383998170 | GRIN2B | c.2260G>T (p.Gly754Trp) n.520G>T c.69+38674G>T (n.69+38674G>T) c.46G>T (p.Gly16Trp) | |
| 12 | g.13569929C= | CA2017440464 | GRIN2B | c.2260G= (p.Gly754=) n.520G= c.69+38674G= (n.69+38674G=) c.46G= (p.Gly16=) | |
| 12 | g.13569929C>G | CA383998171 | GRIN2B | c.2260G>C (p.Gly754Arg) n.520G>C c.69+38674G>C (n.69+38674G>C) c.46G>C (p.Gly16Arg) | |
| 12 | g.13569929C>T | CA383998172 | GRIN2B | c.2260G>A (p.Gly754Arg) n.520G>A c.69+38674G>A (n.69+38674G>A) c.46G>A (p.Gly16Arg) | ClinVar dbSNP gnomAD v4 |
| 12 | g.13569930A= | CA2017440465 | GRIN2B | c.2259T= (p.Ser753=) n.519T= c.69+38673T= (n.69+38673T=) c.45T= (p.Ser15=) | |
| 12 | g.13569930A>C | CA383998173 | GRIN2B | c.2259T>G (p.Ser753Arg) n.519T>G c.69+38673T>G (n.69+38673T>G) c.45T>G (p.Ser15Arg) | |
| 12 | g.13569930A>G | CA478703905 | GRIN2B | c.2259T>C (p.Ser753=) n.519T>C c.69+38673T>C (n.69+38673T>C) c.45T>C (p.Ser15=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.13569930A>T | CA383998174 | GRIN2B | c.2259T>A (p.Ser753Arg) n.519T>A c.69+38673T>A (n.69+38673T>A) c.45T>A (p.Ser15Arg) | |
| 12 | g.13569931C>A | CA383998175 | GRIN2B | c.2258G>T (p.Ser753Ile) n.518G>T c.69+38672G>T (n.69+38672G>T) c.44G>T (p.Ser15Ile) | |
| 12 | g.13569931C>G | CA383998176 | GRIN2B | c.2258G>C (p.Ser753Thr) n.518G>C c.69+38672G>C (n.69+38672G>C) c.44G>C (p.Ser15Thr) | |
| 12 | g.13569931C>T | CA383998177 | GRIN2B | c.2258G>A (p.Ser753Asn) n.518G>A c.69+38672G>A (n.69+38672G>A) c.44G>A (p.Ser15Asn) | |
| 12 | g.13569932T>A | CA383998178 | GRIN2B | c.2257A>T (p.Ser753Cys) n.517A>T c.69+38671A>T (n.69+38671A>T) c.43A>T (p.Ser15Cys) | |
| 12 | g.13569932T>C | CA383998179 | GRIN2B | c.2257A>G (p.Ser753Gly) n.517A>G c.69+38671A>G (n.69+38671A>G) c.43A>G (p.Ser15Gly) | |
| 12 | g.13569932T>G | CA383998180 | GRIN2B | c.2257A>C (p.Ser753Arg) n.517A>C c.69+38671A>C (n.69+38671A>C) c.43A>C (p.Ser15Arg) | |
| 12 | g.13569933G>A | CA478703915 | GRIN2B | c.2256C>T (p.Gly752=) n.516C>T c.69+38670C>T (n.69+38670C>T) c.42C>T (p.Gly14=) | gnomAD v4 |
| 12 | g.13569933G>C | CA478703912 | GRIN2B | c.2256C>G (p.Gly752=) n.516C>G c.69+38670C>G (n.69+38670C>G) c.42C>G (p.Gly14=) | |
| 12 | g.13569933G>T | CA478703914 | GRIN2B | c.2256C>A (p.Gly752=) n.516C>A c.69+38670C>A (n.69+38670C>A) c.42C>A (p.Gly14=) | |
| 12 | g.13569934C>A | CA383998181 | GRIN2B | c.2255G>T (p.Gly752Val) n.515G>T c.69+38669G>T (n.69+38669G>T) c.41G>T (p.Gly14Val) | |
| 12 | g.13569934C>G | CA383998182 | GRIN2B | c.2255G>C (p.Gly752Ala) n.515G>C c.69+38669G>C (n.69+38669G>C) c.41G>C (p.Gly14Ala) | |
| 12 | g.13569934C>T | CA383998183 | GRIN2B | c.2255G>A (p.Gly752Asp) n.515G>A c.69+38669G>A (n.69+38669G>A) c.41G>A (p.Gly14Asp) | |
| 12 | g.13569935C>A | CA383998184 | GRIN2B | c.2254G>T (p.Gly752Cys) n.514G>T c.69+38668G>T (n.69+38668G>T) c.40G>T (p.Gly14Cys) |