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.13569805_13569835dup | CA6461073 | GRIN2B | c.2354_2359+25dup n.614_619+25dup c.69+38768_69+38798dup (n.69+38768_69+38798dup) c.140_145+25dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.13569829_13569838dup | CA2740092337 | GRIN2B | c.2352_2359+2dup n.612_619+2dup c.69+38766_69+38775dup (n.69+38766_69+38775dup) c.138_145+2dup | ClinVar |
| 12 | g.13569829C>A | CA383997906 | GRIN2B | c.2359+1G>T (n.2359+1G>T) n.619+1G>T c.69+38774G>T (n.69+38774G>T) c.145+1G>T (n.145+1G>T) | |
| 12 | g.13569829C>G | CA383997908 | GRIN2B | c.2359+1G>C (n.2359+1G>C) n.619+1G>C c.69+38774G>C (n.69+38774G>C) c.145+1G>C (n.145+1G>C) | |
| 12 | g.13569829C>T | CA383997911 | GRIN2B | c.2359+1G>A (n.2359+1G>A) n.619+1G>A c.69+38774G>A (n.69+38774G>A) c.145+1G>A (n.145+1G>A) | COSMIC |
| 12 | g.13569830C>A | CA383997912 | GRIN2B | c.2359G>T (p.Gly787Trp) n.619G>T c.69+38773G>T (n.69+38773G>T) c.145G>T (p.Gly49Trp) | |
| 12 | g.13569830C>G | CA383997913 | GRIN2B | c.2359G>C (p.Gly787Arg) n.619G>C c.69+38773G>C (n.69+38773G>C) c.145G>C (p.Gly49Arg) | |
| 12 | g.13569830C>T | CA383997916 | GRIN2B | c.2359G>A (p.Gly787Arg) n.619G>A c.69+38773G>A (n.69+38773G>A) c.145G>A (p.Gly49Arg) | |
| 12 | g.13569831A>C | CA383997918 | GRIN2B | c.2358T>G (p.Asp786Glu) n.618T>G c.69+38772T>G (n.69+38772T>G) c.144T>G (p.Asp48Glu) | |
| 12 | g.13569831A>G | CA478703790 | GRIN2B | c.2358T>C (p.Asp786=) n.618T>C c.69+38772T>C (n.69+38772T>C) c.144T>C (p.Asp48=) | |
| 12 | g.13569831A>T | CA383997922 | GRIN2B | c.2358T>A (p.Asp786Glu) n.618T>A c.69+38772T>A (n.69+38772T>A) c.144T>A (p.Asp48Glu) | |
| 12 | g.13569832T>A | CA383997925 | GRIN2B | c.2357A>T (p.Asp786Val) n.617A>T c.69+38771A>T (n.69+38771A>T) c.143A>T (p.Asp48Val) | |
| 12 | g.13569832T>C | CA383997926 | GRIN2B | c.2357A>G (p.Asp786Gly) n.617A>G c.69+38771A>G (n.69+38771A>G) c.143A>G (p.Asp48Gly) | |
| 12 | g.13569832T>G | CA383997928 | GRIN2B | c.2357A>C (p.Asp786Ala) n.617A>C c.69+38771A>C (n.69+38771A>C) c.143A>C (p.Asp48Ala) | |
| 12 | g.13569833C>A | CA383997940 | GRIN2B | c.2356G>T (p.Asp786Tyr) n.616G>T c.69+38770G>T (n.69+38770G>T) c.142G>T (p.Asp48Tyr) | |
| 12 | g.13569833C>G | CA383997943 | GRIN2B | c.2356G>C (p.Asp786His) n.616G>C c.69+38770G>C (n.69+38770G>C) c.142G>C (p.Asp48His) | |
| 12 | g.13569833C>T | CA383997930 | GRIN2B | c.2356G>A (p.Asp786Asn) n.616G>A c.69+38770G>A (n.69+38770G>A) c.142G>A (p.Asp48Asn) | |
| 12 | g.13569834del | CA2695216101 | GRIN2B | c.2355del (p.Asp786MetfsTer24) n.615del c.69+38769del (n.69+38769del) c.141del (p.Asp48MetfsTer24) | |
| 12 | g.13569834T>A | CA478703792 | GRIN2B | c.2355A>T (p.Gly785=) n.615A>T c.69+38769A>T (n.69+38769A>T) c.141A>T (p.Gly47=) | |
| 12 | g.13569834T>C | CA478703795 | GRIN2B | c.2355A>G (p.Gly785=) n.615A>G c.69+38769A>G (n.69+38769A>G) c.141A>G (p.Gly47=) | |
| 12 | g.13569834T>G | CA478703793 | GRIN2B | c.2355A>C (p.Gly785=) n.615A>C c.69+38769A>C (n.69+38769A>C) c.141A>C (p.Gly47=) | |
| 12 | g.13569835C>A | CA383997946 | GRIN2B | c.2354G>T (p.Gly785Val) n.614G>T c.69+38768G>T (n.69+38768G>T) c.140G>T (p.Gly47Val) | |
| 12 | g.13569835C>G | CA383997947 | GRIN2B | c.2354G>C (p.Gly785Ala) n.614G>C c.69+38768G>C (n.69+38768G>C) c.140G>C (p.Gly47Ala) | |
| 12 | g.13569835C>T | CA383997948 | GRIN2B | c.2354G>A (p.Gly785Glu) n.614G>A c.69+38768G>A (n.69+38768G>A) c.140G>A (p.Gly47Glu) | |
| 12 | g.13569836C>A | CA383997952 | GRIN2B | c.2353G>T (p.Gly785Ter) n.613G>T c.69+38767G>T (n.69+38767G>T) c.139G>T (p.Gly47Ter) | dbSNP |
| 12 | g.13569836C= | CA2017440434 | GRIN2B | c.2353G= (p.Gly785=) n.613G= c.69+38767G= (n.69+38767G=) c.139G= (p.Gly47=) | |
| 12 | g.13569836C>G | CA383997954 | GRIN2B | c.2353G>C (p.Gly785Arg) n.613G>C c.69+38767G>C (n.69+38767G>C) c.139G>C (p.Gly47Arg) | |
| 12 | g.13569836C>T | CA383997955 | GRIN2B | c.2353G>A (p.Gly785Arg) n.613G>A c.69+38767G>A (n.69+38767G>A) c.139G>A (p.Gly47Arg) | |
| 12 | g.13569837A>C | CA383997956 | GRIN2B | c.2352T>G (p.Phe784Leu) n.612T>G c.69+38766T>G (n.69+38766T>G) c.138T>G (p.Phe46Leu) | |
| 12 | g.13569837A>G | CA478703799 | GRIN2B | c.2352T>C (p.Phe784=) n.612T>C c.69+38766T>C (n.69+38766T>C) c.138T>C (p.Phe46=) | |
| 12 | g.13569837A>T | CA383997957 | GRIN2B | c.2352T>A (p.Phe784Leu) n.612T>A c.69+38766T>A (n.69+38766T>A) c.138T>A (p.Phe46Leu) | |
| 12 | g.13569838A>C | CA383997959 | GRIN2B | c.2351T>G (p.Phe784Cys) n.611T>G c.69+38765T>G (n.69+38765T>G) c.137T>G (p.Phe46Cys) | |
| 12 | g.13569838A>G | CA383997960 | GRIN2B | c.2351T>C (p.Phe784Ser) n.611T>C c.69+38765T>C (n.69+38765T>C) c.137T>C (p.Phe46Ser) | |
| 12 | g.13569838A>T | CA383997962 | GRIN2B | c.2351T>A (p.Phe784Tyr) n.611T>A c.69+38765T>A (n.69+38765T>A) c.137T>A (p.Phe46Tyr) | |
| 12 | g.13569839A>C | CA383997964 | GRIN2B | c.2350T>G (p.Phe784Val) n.610T>G c.69+38764T>G (n.69+38764T>G) c.136T>G (p.Phe46Val) | |
| 12 | g.13569839A>G | CA383997966 | GRIN2B | c.2350T>C (p.Phe784Leu) n.610T>C c.69+38764T>C (n.69+38764T>C) c.136T>C (p.Phe46Leu) | |
| 12 | g.13569839A>T | CA383997968 | GRIN2B | c.2350T>A (p.Phe784Ile) n.610T>A c.69+38764T>A (n.69+38764T>A) c.136T>A (p.Phe46Ile) | |
| 12 | g.13569840G>A | CA478703804 | GRIN2B | c.2349C>T (p.Leu783=) n.609C>T c.69+38763C>T (n.69+38763C>T) c.135C>T (p.Leu45=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.13569840G>C | CA6461081 | GRIN2B | c.2349C>G (p.Leu783=) n.609C>G c.69+38763C>G (n.69+38763C>G) c.135C>G (p.Leu45=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.13569840G= | CA2017440435 | GRIN2B | c.2349C= (p.Leu783=) n.609C= c.69+38763C= (n.69+38763C=) c.135C= (p.Leu45=) | |
| 12 | g.13569840G>T | CA478703805 | GRIN2B | c.2349C>A (p.Leu783=) n.609C>A c.69+38763C>A (n.69+38763C>A) c.135C>A (p.Leu45=) | |
| 12 | g.13569841A>C | CA383997972 | GRIN2B | c.2348T>G (p.Leu783Arg) n.608T>G c.69+38762T>G (n.69+38762T>G) c.134T>G (p.Leu45Arg) | |
| 12 | g.13569841A>G | CA383997974 | GRIN2B | c.2348T>C (p.Leu783Pro) n.608T>C c.69+38762T>C (n.69+38762T>C) c.134T>C (p.Leu45Pro) | |
| 12 | g.13569841A>T | CA383997975 | GRIN2B | c.2348T>A (p.Leu783His) n.608T>A c.69+38762T>A (n.69+38762T>A) c.134T>A (p.Leu45His) | |
| 12 | g.13569842G>A | CA383997976 | GRIN2B | c.2347C>T (p.Leu783Phe) n.607C>T c.69+38761C>T (n.69+38761C>T) c.133C>T (p.Leu45Phe) | |
| 12 | g.13569842G>C | CA383997977 | GRIN2B | c.2347C>G (p.Leu783Val) n.607C>G c.69+38761C>G (n.69+38761C>G) c.133C>G (p.Leu45Val) | |
| 12 | g.13569842G>T | CA383997978 | GRIN2B | c.2347C>A (p.Leu783Ile) n.607C>A c.69+38761C>A (n.69+38761C>A) c.133C>A (p.Leu45Ile) | |
| 12 | g.13569843C>A | CA383997979 | GRIN2B | c.2346G>T (p.Gln782His) n.606G>T c.69+38760G>T (n.69+38760G>T) c.132G>T (p.Gln44His) | |
| 12 | g.13569843C= | CA2017440436 | GRIN2B | c.2346G= (p.Gln782=) n.606G= c.69+38760G= (n.69+38760G=) c.132G= (p.Gln44=) | |
| 12 | g.13569843C>G | CA383997980 | GRIN2B | c.2346G>C (p.Gln782His) n.606G>C c.69+38760G>C (n.69+38760G>C) c.132G>C (p.Gln44His) |