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 |
|---|---|---|---|---|---|
| 6 | g.44303069C>A | CA364337293 | AARS2,POLR1C,TMEM151B | c.2252G>T (p.Gly751Val) c.577-3874C>A (n.577-3874C>A) c.314-3874C>A c.1961G>T (p.Gly654Val) n.2181-159G>T c.962G>T (p.Gly321Val) c.946-138821C>A (n.946-138821C>A) | |
| 6 | g.44303069C>G | CA364337295 | AARS2,POLR1C,TMEM151B | c.2252G>C (p.Gly751Ala) c.577-3874C>G (n.577-3874C>G) c.314-3874C>G c.1961G>C (p.Gly654Ala) n.2181-159G>C c.962G>C (p.Gly321Ala) c.946-138821C>G (n.946-138821C>G) | |
| 6 | g.44303069C>T | CA364337294 | AARS2,POLR1C,TMEM151B | c.2252G>A (p.Gly751Glu) c.577-3874C>T (n.577-3874C>T) c.314-3874C>T c.1961G>A (p.Gly654Glu) n.2181-159G>A c.962G>A (p.Gly321Glu) c.946-138821C>T (n.946-138821C>T) | |
| 6 | g.44303070C>A | CA364337296 | AARS2,POLR1C,TMEM151B | c.2251G>T (p.Gly751Trp) c.577-3873C>A (n.577-3873C>A) c.314-3873C>A c.1960G>T (p.Gly654Trp) n.2181-160G>T c.961G>T (p.Gly321Trp) c.946-138820C>A (n.946-138820C>A) | |
| 6 | g.44303070C= | CA1624923950 | AARS2,POLR1C,TMEM151B | c.2251G= (p.Gly751=) c.577-3873C= (n.577-3873C=) c.314-3873C= c.1960G= (p.Gly654=) n.2181-160G= c.961G= (p.Gly321=) c.946-138820C= (n.946-138820C=) | |
| 6 | g.44303070C>G | CA364337297 | AARS2,POLR1C,TMEM151B | c.2251G>C (p.Gly751Arg) c.577-3873C>G (n.577-3873C>G) c.314-3873C>G c.1960G>C (p.Gly654Arg) n.2181-160G>C c.961G>C (p.Gly321Arg) c.946-138820C>G (n.946-138820C>G) | |
| 6 | g.44303070C>T | CA364337298 | AARS2,POLR1C,TMEM151B | c.2251G>A (p.Gly751Arg) c.577-3873C>T (n.577-3873C>T) c.314-3873C>T c.1960G>A (p.Gly654Arg) n.2181-160G>A c.961G>A (p.Gly321Arg) c.946-138820C>T (n.946-138820C>T) | dbSNP gnomAD v4 |
| 6 | g.44303071A>C | CA364337299 | AARS2,POLR1C,TMEM151B | c.2250T>G (p.Cys750Trp) c.577-3872A>C (n.577-3872A>C) c.314-3872A>C c.1959T>G (p.Cys653Trp) n.2181-161T>G c.960T>G (p.Cys320Trp) c.946-138819A>C (n.946-138819A>C) | |
| 6 | g.44303071A>G | CA450390914 | AARS2,POLR1C,TMEM151B | c.2250T>C (p.Cys750=) c.577-3872A>G (n.577-3872A>G) c.314-3872A>G c.1959T>C (p.Cys653=) n.2181-161T>C c.960T>C (p.Cys320=) c.946-138819A>G (n.946-138819A>G) | |
| 6 | g.44303071A>T | CA364337300 | AARS2,POLR1C,TMEM151B | c.2250T>A (p.Cys750Ter) c.577-3872A>T (n.577-3872A>T) c.314-3872A>T c.1959T>A (p.Cys653Ter) n.2181-161T>A c.960T>A (p.Cys320Ter) c.946-138819A>T (n.946-138819A>T) | |
| 6 | g.44303072C>A | CA364337302 | AARS2,POLR1C,TMEM151B | c.2249G>T (p.Cys750Phe) c.577-3871C>A (n.577-3871C>A) c.314-3871C>A c.1958G>T (p.Cys653Phe) n.2181-162G>T c.959G>T (p.Cys320Phe) c.946-138818C>A (n.946-138818C>A) | |
| 6 | g.44303072C= | CA1624923955 | AARS2,POLR1C,TMEM151B | c.2249G= (p.Cys750=) c.577-3871C= (n.577-3871C=) c.314-3871C= c.1958G= (p.Cys653=) n.2181-162G= c.959G= (p.Cys320=) c.946-138818C= (n.946-138818C=) | |
| 6 | g.44303072C>G | CA364337301 | AARS2,POLR1C,TMEM151B | c.2249G>C (p.Cys750Ser) c.577-3871C>G (n.577-3871C>G) c.314-3871C>G c.1958G>C (p.Cys653Ser) n.2181-162G>C c.959G>C (p.Cys320Ser) c.946-138818C>G (n.946-138818C>G) | |
| 6 | g.44303072C>T | CA3834058 | AARS2,POLR1C,TMEM151B | c.2249G>A (p.Cys750Tyr) c.577-3871C>T (n.577-3871C>T) c.314-3871C>T c.1958G>A (p.Cys653Tyr) n.2181-162G>A c.959G>A (p.Cys320Tyr) c.946-138818C>T (n.946-138818C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.44303073A= | CA1624923961 | AARS2,POLR1C,TMEM151B | c.2248T= (p.Cys750=) c.577-3870A= (n.577-3870A=) c.314-3870A= c.1957T= (p.Cys653=) n.2181-163T= c.958T= (p.Cys320=) c.946-138817A= (n.946-138817A=) | |
| 6 | g.44303073A>C | CA364337303 | AARS2,POLR1C,TMEM151B | c.2248T>G (p.Cys750Gly) c.577-3870A>C (n.577-3870A>C) c.314-3870A>C c.1957T>G (p.Cys653Gly) n.2181-163T>G c.958T>G (p.Cys320Gly) c.946-138817A>C (n.946-138817A>C) | |
| 6 | g.44303073A>G | CA3834059 | AARS2,POLR1C,TMEM151B | c.2248T>C (p.Cys750Arg) c.577-3870A>G (n.577-3870A>G) c.314-3870A>G c.1957T>C (p.Cys653Arg) n.2181-163T>C c.958T>C (p.Cys320Arg) c.946-138817A>G (n.946-138817A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.44303073A>T | CA364337304 | AARS2,POLR1C,TMEM151B | c.2248T>A (p.Cys750Ser) c.577-3870A>T (n.577-3870A>T) c.314-3870A>T c.1957T>A (p.Cys653Ser) n.2181-163T>A c.958T>A (p.Cys320Ser) c.946-138817A>T (n.946-138817A>T) | |
| 6 | g.44303074G>A | CA3834060 | AARS2,POLR1C,TMEM151B | c.2247C>T (p.Cys749=) c.577-3869G>A (n.577-3869G>A) c.314-3869G>A c.1956C>T (p.Cys652=) n.2181-164C>T c.957C>T (p.Cys319=) c.946-138816G>A (n.946-138816G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.44303074G>C | CA364337305 | AARS2,POLR1C,TMEM151B | c.2247C>G (p.Cys749Trp) c.577-3869G>C (n.577-3869G>C) c.314-3869G>C c.1956C>G (p.Cys652Trp) n.2181-164C>G c.957C>G (p.Cys319Trp) c.946-138816G>C (n.946-138816G>C) | |
| 6 | g.44303074G= | CA1624923964 | AARS2,POLR1C,TMEM151B | c.2247C= (p.Cys749=) c.577-3869G= (n.577-3869G=) c.314-3869G= c.1956C= (p.Cys652=) n.2181-164C= c.957C= (p.Cys319=) c.946-138816G= (n.946-138816G=) | |
| 6 | g.44303074G>T | CA364337306 | AARS2,POLR1C,TMEM151B | c.2247C>A (p.Cys749Ter) c.577-3869G>T (n.577-3869G>T) c.314-3869G>T c.1956C>A (p.Cys652Ter) n.2181-164C>A c.957C>A (p.Cys319Ter) c.946-138816G>T (n.946-138816G>T) | |
| 6 | g.44303075C>A | CA364337307 | AARS2,POLR1C,TMEM151B | c.2246G>T (p.Cys749Phe) c.577-3868C>A (n.577-3868C>A) c.314-3868C>A c.1955G>T (p.Cys652Phe) n.2181-165G>T c.956G>T (p.Cys319Phe) c.946-138815C>A (n.946-138815C>A) | |
| 6 | g.44303075C>G | CA364337309 | AARS2,POLR1C,TMEM151B | c.2246G>C (p.Cys749Ser) c.577-3868C>G (n.577-3868C>G) c.314-3868C>G c.1955G>C (p.Cys652Ser) n.2181-165G>C c.956G>C (p.Cys319Ser) c.946-138815C>G (n.946-138815C>G) | |
| 6 | g.44303075C>T | CA364337308 | AARS2,POLR1C,TMEM151B | c.2246G>A (p.Cys749Tyr) c.577-3868C>T (n.577-3868C>T) c.314-3868C>T c.1955G>A (p.Cys652Tyr) n.2181-165G>A c.956G>A (p.Cys319Tyr) c.946-138815C>T (n.946-138815C>T) | |
| 6 | g.44303076A= | CA1624923966 | AARS2,POLR1C,TMEM151B | c.2245T= (p.Cys749=) c.577-3867A= (n.577-3867A=) c.314-3867A= c.1954T= (p.Cys652=) n.2181-166T= c.955T= (p.Cys319=) c.946-138814A= (n.946-138814A=) | |
| 6 | g.44303076A>C | CA364337310 | AARS2,POLR1C,TMEM151B | c.2245T>G (p.Cys749Gly) c.577-3867A>C (n.577-3867A>C) c.314-3867A>C c.1954T>G (p.Cys652Gly) n.2181-166T>G c.955T>G (p.Cys319Gly) c.946-138814A>C (n.946-138814A>C) | |
| 6 | g.44303076A>G | CA364337311 | AARS2,POLR1C,TMEM151B | c.2245T>C (p.Cys749Arg) c.577-3867A>G (n.577-3867A>G) c.314-3867A>G c.1954T>C (p.Cys652Arg) n.2181-166T>C c.955T>C (p.Cys319Arg) c.946-138814A>G (n.946-138814A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.44303076A>T | CA364337312 | AARS2,POLR1C,TMEM151B | c.2245T>A (p.Cys749Ser) c.577-3867A>T (n.577-3867A>T) c.314-3867A>T c.1954T>A (p.Cys652Ser) n.2181-166T>A c.955T>A (p.Cys319Ser) c.946-138814A>T (n.946-138814A>T) | |
| 6 | g.44303077T>A | CA450390915 | AARS2,POLR1C,TMEM151B | c.2244A>T (p.Leu748=) c.577-3866T>A (n.577-3866T>A) c.314-3866T>A c.1953A>T (p.Leu651=) n.2181-167A>T c.954A>T (p.Leu318=) c.946-138813T>A (n.946-138813T>A) | |
| 6 | g.44303077T>C | CA450390916 | AARS2,POLR1C,TMEM151B | c.2244A>G (p.Leu748=) c.577-3866T>C (n.577-3866T>C) c.314-3866T>C c.1953A>G (p.Leu651=) n.2181-167A>G c.954A>G (p.Leu318=) c.946-138813T>C (n.946-138813T>C) | gnomAD v4 |
| 6 | g.44303077T>G | CA450390917 | AARS2,POLR1C,TMEM151B | c.2244A>C (p.Leu748=) c.577-3866T>G (n.577-3866T>G) c.314-3866T>G c.1953A>C (p.Leu651=) n.2181-167A>C c.954A>C (p.Leu318=) c.946-138813T>G (n.946-138813T>G) | |
| 6 | g.44303078A= | CA1624923970 | AARS2,POLR1C,TMEM151B | c.2243T= (p.Leu748=) c.577-3865A= (n.577-3865A=) c.314-3865A= c.1952T= (p.Leu651=) n.2181-168T= c.953T= (p.Leu318=) c.946-138812A= (n.946-138812A=) | |
| 6 | g.44303078A>C | CA364337313 | AARS2,POLR1C,TMEM151B | c.2243T>G (p.Leu748Arg) c.577-3865A>C (n.577-3865A>C) c.314-3865A>C c.1952T>G (p.Leu651Arg) n.2181-168T>G c.953T>G (p.Leu318Arg) c.946-138812A>C (n.946-138812A>C) | |
| 6 | g.44303078A>G | CA364337314 | AARS2,POLR1C,TMEM151B | c.2243T>C (p.Leu748Pro) c.577-3865A>G (n.577-3865A>G) c.314-3865A>G c.1952T>C (p.Leu651Pro) n.2181-168T>C c.953T>C (p.Leu318Pro) c.946-138812A>G (n.946-138812A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.44303078A>T | CA364337315 | AARS2,POLR1C,TMEM151B | c.2243T>A (p.Leu748Gln) c.577-3865A>T (n.577-3865A>T) c.314-3865A>T c.1952T>A (p.Leu651Gln) n.2181-168T>A c.953T>A (p.Leu318Gln) c.946-138812A>T (n.946-138812A>T) | |
| 6 | g.44303079G>A | CA450390918 | AARS2,POLR1C,TMEM151B | c.2242C>T (p.Leu748=) c.577-3864G>A (n.577-3864G>A) c.314-3864G>A c.1951C>T (p.Leu651=) n.2181-169C>T c.952C>T (p.Leu318=) c.946-138811G>A (n.946-138811G>A) | gnomAD v4 |
| 6 | g.44303079G>C | CA364337316 | AARS2,POLR1C,TMEM151B | c.2242C>G (p.Leu748Val) c.577-3864G>C (n.577-3864G>C) c.314-3864G>C c.1951C>G (p.Leu651Val) n.2181-169C>G c.952C>G (p.Leu318Val) c.946-138811G>C (n.946-138811G>C) | |
| 6 | g.44303079G>T | CA364337317 | AARS2,POLR1C,TMEM151B | c.2242C>A (p.Leu748Ile) c.577-3864G>T (n.577-3864G>T) c.314-3864G>T c.1951C>A (p.Leu651Ile) n.2181-169C>A c.952C>A (p.Leu318Ile) c.946-138811G>T (n.946-138811G>T) | |
| 6 | g.44303080C>A | CA364337318 | AARS2,POLR1C,TMEM151B | c.2241G>T (p.Glu747Asp) c.577-3863C>A (n.577-3863C>A) c.314-3863C>A c.1950G>T (p.Glu650Asp) n.2181-170G>T c.951G>T (p.Glu317Asp) c.946-138810C>A (n.946-138810C>A) | |
| 6 | g.44303080C>G | CA364337319 | AARS2,POLR1C,TMEM151B | c.2241G>C (p.Glu747Asp) c.577-3863C>G (n.577-3863C>G) c.314-3863C>G c.1950G>C (p.Glu650Asp) n.2181-170G>C c.951G>C (p.Glu317Asp) c.946-138810C>G (n.946-138810C>G) | |
| 6 | g.44303080C>T | CA450390919 | AARS2,POLR1C,TMEM151B | c.2241G>A (p.Glu747=) c.577-3863C>T (n.577-3863C>T) c.314-3863C>T c.1950G>A (p.Glu650=) n.2181-170G>A c.951G>A (p.Glu317=) c.946-138810C>T (n.946-138810C>T) | |
| 6 | g.44303081T>A | CA364337320 | AARS2,POLR1C,TMEM151B | c.2240A>T (p.Glu747Val) c.577-3862T>A (n.577-3862T>A) c.314-3862T>A c.1949A>T (p.Glu650Val) n.2181-171A>T c.950A>T (p.Glu317Val) c.946-138809T>A (n.946-138809T>A) | |
| 6 | g.44303081T>C | CA364337322 | AARS2,POLR1C,TMEM151B | c.2240A>G (p.Glu747Gly) c.577-3862T>C (n.577-3862T>C) c.314-3862T>C c.1949A>G (p.Glu650Gly) n.2181-171A>G c.950A>G (p.Glu317Gly) c.946-138809T>C (n.946-138809T>C) | |
| 6 | g.44303081T>G | CA364337321 | AARS2,POLR1C,TMEM151B | c.2240A>C (p.Glu747Ala) c.577-3862T>G (n.577-3862T>G) c.314-3862T>G c.1949A>C (p.Glu650Ala) n.2181-171A>C c.950A>C (p.Glu317Ala) c.946-138809T>G (n.946-138809T>G) | |
| 6 | g.44303082C>A | CA364337323 | AARS2,POLR1C,TMEM151B | c.2239G>T (p.Glu747Ter) c.577-3861C>A (n.577-3861C>A) c.314-3861C>A c.1948G>T (p.Glu650Ter) n.2181-172G>T c.949G>T (p.Glu317Ter) c.946-138808C>A (n.946-138808C>A) | |
| 6 | g.44303082C>G | CA364337325 | AARS2,POLR1C,TMEM151B | c.2239G>C (p.Glu747Gln) c.577-3861C>G (n.577-3861C>G) c.314-3861C>G c.1948G>C (p.Glu650Gln) n.2181-172G>C c.949G>C (p.Glu317Gln) c.946-138808C>G (n.946-138808C>G) | |
| 6 | g.44303082C>T | CA364337324 | AARS2,POLR1C,TMEM151B | c.2239G>A (p.Glu747Lys) c.577-3861C>T (n.577-3861C>T) c.314-3861C>T c.1948G>A (p.Glu650Lys) n.2181-172G>A c.949G>A (p.Glu317Lys) c.946-138808C>T (n.946-138808C>T) | |
| 6 | g.44303083C>A | CA450390922 | AARS2,POLR1C,TMEM151B | c.2238G>T (p.Val746=) c.577-3860C>A (n.577-3860C>A) c.314-3860C>A c.1947G>T (p.Val649=) n.2181-173G>T c.948G>T (p.Val316=) c.946-138807C>A (n.946-138807C>A) | |
| 6 | g.44303083C= | CA1624923974 | AARS2,POLR1C,TMEM151B | c.2238G= (p.Val746=) c.577-3860C= (n.577-3860C=) c.314-3860C= c.1947G= (p.Val649=) n.2181-173G= c.948G= (p.Val316=) c.946-138807C= (n.946-138807C=) |