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 |
|---|---|---|---|---|---|
| 15 | g.101646767A= | CA2200628487 | TM2D3 | c.460T= (p.Tyr154=) c.382T= (p.Tyr128=) c.291T= c.761T= n.481T= c.*828T= (n.*828T=) n.402T= c.265T= (p.Tyr89=) | |
| 15 | g.101646767A>C | CA393979073 | TM2D3 | c.460T>G (p.Tyr154Asp) c.382T>G (p.Tyr128Asp) c.291T>G c.761T>G n.481T>G c.*828T>G (n.*828T>G) n.402T>G c.265T>G (p.Tyr89Asp) | |
| 15 | g.101646767A>G | CA393979076 | TM2D3 | c.460T>C (p.Tyr154His) c.382T>C (p.Tyr128His) c.291T>C c.761T>C n.481T>C c.*828T>C (n.*828T>C) n.402T>C c.265T>C (p.Tyr89His) | dbSNP gnomAD v4 |
| 15 | g.101646767A>T | CA393979079 | TM2D3 | c.460T>A (p.Tyr154Asn) c.382T>A (p.Tyr128Asn) c.291T>A c.761T>A n.481T>A c.*828T>A (n.*828T>A) n.402T>A c.265T>A (p.Tyr89Asn) | |
| 15 | g.101646768G>A | CA492691486 | TM2D3 | c.459C>T (p.Arg153=) c.381C>T (p.Arg127=) c.290C>T c.760C>T n.480C>T c.*827C>T (n.*827C>T) n.401C>T c.264C>T (p.Arg88=) | |
| 15 | g.101646768G>C | CA492691487 | TM2D3 | c.459C>G (p.Arg153=) c.381C>G (p.Arg127=) c.290C>G c.760C>G n.480C>G c.*827C>G (n.*827C>G) n.401C>G c.264C>G (p.Arg88=) | |
| 15 | g.101646768G>T | CA492691488 | TM2D3 | c.459C>A (p.Arg153=) c.381C>A (p.Arg127=) c.290C>A c.760C>A n.480C>A c.*827C>A (n.*827C>A) n.401C>A c.264C>A (p.Arg88=) | |
| 15 | g.101646769C>A | CA393979084 | TM2D3 | c.458G>T (p.Arg153Leu) c.380G>T (p.Arg127Leu) c.289G>T c.759G>T n.479G>T c.*826G>T (n.*826G>T) n.400G>T c.263G>T (p.Arg88Leu) | |
| 15 | g.101646769C= | CA2200628488 | TM2D3 | c.458G= (p.Arg153=) c.380G= (p.Arg127=) c.289G= c.759G= n.479G= c.*826G= (n.*826G=) n.400G= c.263G= (p.Arg88=) | |
| 15 | g.101646769C>G | CA393979082 | TM2D3 | c.458G>C (p.Arg153Pro) c.380G>C (p.Arg127Pro) c.289G>C c.759G>C n.479G>C c.*826G>C (n.*826G>C) n.400G>C c.263G>C (p.Arg88Pro) | |
| 15 | g.101646769C>T | CA7764590 | TM2D3 | c.458G>A (p.Arg153His) c.380G>A (p.Arg127His) c.289G>A c.759G>A n.479G>A c.*826G>A (n.*826G>A) n.400G>A c.263G>A (p.Arg88His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.101646770G>A | CA393979087 | TM2D3 | c.457C>T (p.Arg153Cys) c.379C>T (p.Arg127Cys) c.288C>T c.758C>T n.478C>T c.*825C>T (n.*825C>T) n.399C>T c.262C>T (p.Arg88Cys) | dbSNP gnomAD v4 |
| 15 | g.101646770G>C | CA393979090 | TM2D3 | c.457C>G (p.Arg153Gly) c.379C>G (p.Arg127Gly) c.288C>G c.758C>G n.478C>G c.*825C>G (n.*825C>G) n.399C>G c.262C>G (p.Arg88Gly) | gnomAD v4 |
| 15 | g.101646770G= | CA2200628489 | TM2D3 | c.457C= (p.Arg153=) c.379C= (p.Arg127=) c.288C= c.758C= n.478C= c.*825C= (n.*825C=) n.399C= c.262C= (p.Arg88=) | |
| 15 | g.101646770G>T | CA393979092 | TM2D3 | c.457C>A (p.Arg153Ser) c.379C>A (p.Arg127Ser) c.288C>A c.758C>A n.478C>A c.*825C>A (n.*825C>A) n.399C>A c.262C>A (p.Arg88Ser) | |
| 15 | g.101646771C>A | CA393979093 | TM2D3 | c.456G>T (p.Gln152His) c.378G>T (p.Gln126His) c.287G>T c.757G>T n.477G>T c.*824G>T (n.*824G>T) n.398G>T c.261G>T (p.Gln87His) | |
| 15 | g.101646771C>G | CA393979094 | TM2D3 | c.456G>C (p.Gln152His) c.378G>C (p.Gln126His) c.287G>C c.757G>C n.477G>C c.*824G>C (n.*824G>C) n.398G>C c.261G>C (p.Gln87His) | gnomAD v4 |
| 15 | g.101646771C>T | CA492691493 | TM2D3 | c.456G>A (p.Gln152=) c.378G>A (p.Gln126=) c.287G>A c.757G>A n.477G>A c.*824G>A (n.*824G>A) n.398G>A c.261G>A (p.Gln87=) | |
| 15 | g.101646772T>A | CA393979095 | TM2D3 | c.455A>T (p.Gln152Leu) c.377A>T (p.Gln126Leu) c.286A>T c.756A>T n.476A>T c.*823A>T (n.*823A>T) n.397A>T c.260A>T (p.Gln87Leu) | |
| 15 | g.101646772T>C | CA276363011 | TM2D3 | c.455A>G (p.Gln152Arg) c.377A>G (p.Gln126Arg) c.286A>G c.756A>G n.476A>G c.*823A>G (n.*823A>G) n.397A>G c.260A>G (p.Gln87Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.101646772T>G | CA393979096 | TM2D3 | c.455A>C (p.Gln152Pro) c.377A>C (p.Gln126Pro) c.286A>C c.756A>C n.476A>C c.*823A>C (n.*823A>C) n.397A>C c.260A>C (p.Gln87Pro) | |
| 15 | g.101646772T= | CA2200628490 | TM2D3 | c.455A= (p.Gln152=) c.377A= (p.Gln126=) c.286A= c.756A= n.476A= c.*823A= (n.*823A=) n.397A= c.260A= (p.Gln87=) | |
| 15 | g.101646773G>A | CA393979097 | TM2D3 | c.454C>T (p.Gln152Ter) c.376C>T (p.Gln126Ter) c.285C>T c.755C>T n.475C>T c.*822C>T (n.*822C>T) n.396C>T c.259C>T (p.Gln87Ter) | |
| 15 | g.101646773G>C | CA393979098 | TM2D3 | c.454C>G (p.Gln152Glu) c.376C>G (p.Gln126Glu) c.285C>G c.755C>G n.475C>G c.*822C>G (n.*822C>G) n.396C>G c.259C>G (p.Gln87Glu) | |
| 15 | g.101646773G>T | CA393979100 | TM2D3 | c.454C>A (p.Gln152Lys) c.376C>A (p.Gln126Lys) c.285C>A c.755C>A n.475C>A c.*822C>A (n.*822C>A) n.396C>A c.259C>A (p.Gln87Lys) | |
| 15 | g.101646774C>A | CA492691499 | TM2D3 | c.453G>T (p.Arg151=) c.375G>T (p.Arg125=) c.284G>T c.754G>T n.474G>T c.*821G>T (n.*821G>T) n.395G>T c.258G>T (p.Arg86=) | |
| 15 | g.101646774C= | CA2200628491 | TM2D3 | c.453G= (p.Arg151=) c.375G= (p.Arg125=) c.284G= c.754G= n.474G= c.*821G= (n.*821G=) n.395G= c.258G= (p.Arg86=) | |
| 15 | g.101646774C>G | CA492691497 | TM2D3 | c.453G>C (p.Arg151=) c.375G>C (p.Arg125=) c.284G>C c.754G>C n.474G>C c.*821G>C (n.*821G>C) n.395G>C c.258G>C (p.Arg86=) | |
| 15 | g.101646774C>T | CA276363017 | TM2D3 | c.453G>A (p.Arg151=) c.375G>A (p.Arg125=) c.284G>A c.754G>A n.474G>A c.*821G>A (n.*821G>A) n.395G>A c.258G>A (p.Arg86=) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.101646775C>A | CA393979102 | TM2D3 | c.452G>T (p.Arg151Leu) c.374G>T (p.Arg125Leu) c.283G>T c.753G>T n.473G>T c.*820G>T (n.*820G>T) n.394G>T c.257G>T (p.Arg86Leu) | |
| 15 | g.101646775C= | CA2200628492 | TM2D3 | c.452G= (p.Arg151=) c.374G= (p.Arg125=) c.283G= c.753G= n.473G= c.*820G= (n.*820G=) n.394G= c.257G= (p.Arg86=) | |
| 15 | g.101646775C>G | CA393979104 | TM2D3 | c.452G>C (p.Arg151Pro) c.374G>C (p.Arg125Pro) c.283G>C c.753G>C n.473G>C c.*820G>C (n.*820G>C) n.394G>C c.257G>C (p.Arg86Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.101646775C>T | CA276363025 | TM2D3 | c.452G>A (p.Arg151Gln) c.374G>A (p.Arg125Gln) c.283G>A c.753G>A n.473G>A c.*820G>A (n.*820G>A) n.394G>A c.257G>A (p.Arg86Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.101646776G>A | CA7764591 | TM2D3 | c.451C>T (p.Arg151Trp) c.373C>T (p.Arg125Trp) c.282C>T c.752C>T n.472C>T c.*819C>T (n.*819C>T) n.393C>T c.256C>T (p.Arg86Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.101646776G>C | CA393979106 | TM2D3 | c.451C>G (p.Arg151Gly) c.373C>G (p.Arg125Gly) c.282C>G c.752C>G n.472C>G c.*819C>G (n.*819C>G) n.393C>G c.256C>G (p.Arg86Gly) | |
| 15 | g.101646776G= | CA2200628493 | TM2D3 | c.451C= (p.Arg151=) c.373C= (p.Arg125=) c.282C= c.752C= n.472C= c.*819C= (n.*819C=) n.393C= c.256C= (p.Arg86=) | |
| 15 | g.101646776G>T | CA492691504 | TM2D3 | c.451C>A (p.Arg151=) c.373C>A (p.Arg125=) c.282C>A c.752C>A n.472C>A c.*819C>A (n.*819C>A) n.393C>A c.256C>A (p.Arg86=) | |
| 15 | g.101646777A>C | CA492691505 | TM2D3 | c.450T>G (p.Pro150=) c.372T>G (p.Pro124=) c.281T>G c.751T>G n.471T>G c.*818T>G (n.*818T>G) n.392T>G c.255T>G (p.Pro85=) | |
| 15 | g.101646777A>G | CA492691506 | TM2D3 | c.450T>C (p.Pro150=) c.372T>C (p.Pro124=) c.281T>C c.751T>C n.471T>C c.*818T>C (n.*818T>C) n.392T>C c.255T>C (p.Pro85=) | |
| 15 | g.101646777A>T | CA492691508 | TM2D3 | c.450T>A (p.Pro150=) c.372T>A (p.Pro124=) c.281T>A c.751T>A n.471T>A c.*818T>A (n.*818T>A) n.392T>A c.255T>A (p.Pro85=) | |
| 15 | g.101646778G>A | CA7764592 | TM2D3 | c.449C>T (p.Pro150Leu) c.371C>T (p.Pro124Leu) c.280C>T c.750C>T n.470C>T c.*817C>T (n.*817C>T) n.391C>T c.254C>T (p.Pro85Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.101646778G>C | CA7764593 | TM2D3 | c.449C>G (p.Pro150Arg) c.371C>G (p.Pro124Arg) c.280C>G c.750C>G n.470C>G c.*817C>G (n.*817C>G) n.391C>G c.254C>G (p.Pro85Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.101646778G= | CA2200628494 | TM2D3 | c.449C= (p.Pro150=) c.371C= (p.Pro124=) c.280C= c.750C= n.470C= c.*817C= (n.*817C=) n.391C= c.254C= (p.Pro85=) | |
| 15 | g.101646778G>T | CA393979110 | TM2D3 | c.449C>A (p.Pro150His) c.371C>A (p.Pro124His) c.280C>A c.750C>A n.470C>A c.*817C>A (n.*817C>A) n.391C>A c.254C>A (p.Pro85His) | |
| 15 | g.101646779G>A | CA393979111 | TM2D3 | c.448C>T (p.Pro150Ser) c.370C>T (p.Pro124Ser) c.279C>T c.749C>T n.469C>T c.*816C>T (n.*816C>T) n.390C>T c.253C>T (p.Pro85Ser) | |
| 15 | g.101646779G>C | CA7764594 | TM2D3 | c.448C>G (p.Pro150Ala) c.370C>G (p.Pro124Ala) c.279C>G c.749C>G n.469C>G c.*816C>G (n.*816C>G) n.390C>G c.253C>G (p.Pro85Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.101646779G= | CA2200628495 | TM2D3 | c.448C= (p.Pro150=) c.370C= (p.Pro124=) c.279C= c.749C= n.469C= c.*816C= (n.*816C=) n.390C= c.253C= (p.Pro85=) | |
| 15 | g.101646779G>T | CA393979114 | TM2D3 | c.448C>A (p.Pro150Thr) c.370C>A (p.Pro124Thr) c.279C>A c.749C>A n.469C>A c.*816C>A (n.*816C>A) n.390C>A c.253C>A (p.Pro85Thr) | |
| 15 | g.101646780A= | CA2200628496 | TM2D3 | c.447T= (p.Cys149=) c.369T= (p.Cys123=) c.278T= c.748T= n.468T= c.*815T= (n.*815T=) n.389T= c.252T= (p.Cys84=) | |
| 15 | g.101646780A>C | CA393979117 | TM2D3 | c.447T>G (p.Cys149Trp) c.369T>G (p.Cys123Trp) c.278T>G c.748T>G n.468T>G c.*815T>G (n.*815T>G) n.389T>G c.252T>G (p.Cys84Trp) |