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 |
|---|---|---|---|---|---|
| 11 | g.5254290A>C | CA379264065 | HBG2 | c.315+2T>G (n.315+2T>G) c.150+2T>G (n.150+2T>G) c.285+2T>G (n.285+2T>G) c.*184+2T>G (n.*184+2T>G) c.43-5A>C (n.43-5A>C) | |
| 11 | g.5254290A>G | CA379264066 | HBG2 | c.315+2T>C (n.315+2T>C) c.150+2T>C (n.150+2T>C) c.285+2T>C (n.285+2T>C) c.*184+2T>C (n.*184+2T>C) c.43-5A>G (n.43-5A>G) | |
| 11 | g.5254290A>T | CA379264067 | HBG2 | c.315+2T>A (n.315+2T>A) c.150+2T>A (n.150+2T>A) c.285+2T>A (n.285+2T>A) c.*184+2T>A (n.*184+2T>A) c.43-5A>T (n.43-5A>T) | |
| 11 | g.5254291C>A | CA379264068 | HBG2 | c.315+1G>T (n.315+1G>T) c.150+1G>T (n.150+1G>T) c.285+1G>T (n.285+1G>T) c.*184+1G>T (n.*184+1G>T) c.43-4C>A (n.43-4C>A) | |
| 11 | g.5254291C>G | CA379264069 | HBG2 | c.315+1G>C (n.315+1G>C) c.150+1G>C (n.150+1G>C) c.285+1G>C (n.285+1G>C) c.*184+1G>C (n.*184+1G>C) c.43-4C>G (n.43-4C>G) | |
| 11 | g.5254291C>T | CA379264070 | HBG2 | c.315+1G>A (n.315+1G>A) c.150+1G>A (n.150+1G>A) c.285+1G>A (n.285+1G>A) c.*184+1G>A (n.*184+1G>A) c.43-4C>T (n.43-4C>T) | gnomAD v4 |
| 11 | g.5254292C>A | CA379264071 | HBG2 | c.315G>T (p.Lys105Asn) c.150G>T (p.Lys50Asn) c.285G>T (p.Lys95Asn) c.*184G>T (n.*184G>T) c.43-3C>A (n.43-3C>A) | |
| 11 | g.5254292C= | CA1949577206 | HBG2 | c.315G= (p.Lys105=) c.150G= (p.Lys50=) c.285G= (p.Lys95=) c.*184G= (n.*184G=) c.43-3C= (n.43-3C=) | |
| 11 | g.5254292C>G | CA124564 | HBG2 | c.315G>C (p.Lys105Asn) c.150G>C (p.Lys50Asn) c.285G>C (p.Lys95Asn) c.*184G>C (n.*184G>C) c.43-3C>G (n.43-3C>G) | ClinVar dbSNP |
| 11 | g.5254292C>T | CA472633705 | HBG2 | c.315G>A (p.Lys105=) c.150G>A (p.Lys50=) c.285G>A (p.Lys95=) c.*184G>A (n.*184G>A) c.43-3C>T (n.43-3C>T) | |
| 11 | g.5254293T>A | CA379264072 | HBG2 | c.314A>T (p.Lys105Met) c.149A>T (p.Lys50Met) c.284A>T (p.Lys95Met) c.*183A>T (n.*183A>T) c.43-2T>A (n.43-2T>A) | |
| 11 | g.5254293T>C | CA379264073 | HBG2 | c.314A>G (p.Lys105Arg) c.149A>G (p.Lys50Arg) c.284A>G (p.Lys95Arg) c.*183A>G (n.*183A>G) c.43-2T>C (n.43-2T>C) | |
| 11 | g.5254293T>G | CA5840252 | HBG2 | c.314A>C (p.Lys105Thr) c.149A>C (p.Lys50Thr) c.284A>C (p.Lys95Thr) c.*183A>C (n.*183A>C) c.43-2T>G (n.43-2T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.5254293T= | CA1949577211 | HBG2 | c.314A= (p.Lys105=) c.149A= (p.Lys50=) c.284A= (p.Lys95=) c.*183A= (n.*183A=) c.43-2T= (n.43-2T=) | |
| 11 | g.5254294T>A | CA379264074 | HBG2 | c.313A>T (p.Lys105Ter) c.148A>T (p.Lys50Ter) c.283A>T (p.Lys95Ter) c.*182A>T (n.*182A>T) c.43-1T>A (n.43-1T>A) | |
| 11 | g.5254294T>C | CA379264076 | HBG2 | c.313A>G (p.Lys105Glu) c.148A>G (p.Lys50Glu) c.283A>G (p.Lys95Glu) c.*182A>G (n.*182A>G) c.43-1T>C (n.43-1T>C) | |
| 11 | g.5254294T>G | CA379264075 | HBG2 | c.313A>C (p.Lys105Gln) c.148A>C (p.Lys50Gln) c.283A>C (p.Lys95Gln) c.*182A>C (n.*182A>C) c.43-1T>G (n.43-1T>G) | gnomAD v4 |
| 11 | g.5254295G>A | CA217121186 | HBG2 | c.312C>T (p.Phe104=) c.147C>T (p.Phe49=) c.282C>T (p.Phe94=) c.*181C>T (n.*181C>T) c.43G>A (p.Glu15Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.5254295G>C | CA379264077 | HBG2 | c.312C>G (p.Phe104Leu) c.147C>G (p.Phe49Leu) c.282C>G (p.Phe94Leu) c.*181C>G (n.*181C>G) c.43G>C (p.Glu15Gln) | |
| 11 | g.5254295G= | CA1949577215 | HBG2 | c.312C= (p.Phe104=) c.147C= (p.Phe49=) c.282C= (p.Phe94=) c.*181C= (n.*181C=) c.43G= (p.Glu15=) | |
| 11 | g.5254295G>T | CA379264078 | HBG2 | c.312C>A (p.Phe104Leu) c.147C>A (p.Phe49Leu) c.282C>A (p.Phe94Leu) c.*181C>A (n.*181C>A) c.43G>T (p.Glu15Ter) | |
| 11 | g.5254296A>C | CA379264079 | HBG2 | c.311T>G (p.Phe104Cys) c.146T>G (p.Phe49Cys) c.281T>G (p.Phe94Cys) c.*180T>G (n.*180T>G) c.44A>C (p.Glu15Ala) | |
| 11 | g.5254296A>G | CA379264080 | HBG2 | c.311T>C (p.Phe104Ser) c.146T>C (p.Phe49Ser) c.281T>C (p.Phe94Ser) c.*180T>C (n.*180T>C) c.44A>G (p.Glu15Gly) | |
| 11 | g.5254296A>T | CA379264081 | HBG2 | c.311T>A (p.Phe104Tyr) c.146T>A (p.Phe49Tyr) c.281T>A (p.Phe94Tyr) c.*180T>A (n.*180T>A) c.44A>T (p.Glu15Val) | |
| 11 | g.5254297A>C | CA379264082 | HBG2 | c.310T>G (p.Phe104Val) c.145T>G (p.Phe49Val) c.280T>G (p.Phe94Val) c.*179T>G (n.*179T>G) c.45A>C (p.Glu15Asp) | |
| 11 | g.5254297A>G | CA379264083 | HBG2 | c.310T>C (p.Phe104Leu) c.145T>C (p.Phe49Leu) c.280T>C (p.Phe94Leu) c.*179T>C (n.*179T>C) c.45A>G (p.Glu15=) | COSMIC |
| 11 | g.5254297A>T | CA379264084 | HBG2 | c.310T>A (p.Phe104Ile) c.145T>A (p.Phe49Ile) c.280T>A (p.Phe94Ile) c.*179T>A (n.*179T>A) c.45A>T (p.Glu15Asp) | |
| 11 | g.5254298G>A | CA379264085 | HBG2 | c.309C>T (p.Asn103=) c.144C>T (p.Asn48=) c.279C>T (p.Asn93=) c.*178C>T (n.*178C>T) c.46G>A (p.Val16Ile) | |
| 11 | g.5254298G>C | CA379264086 | HBG2 | c.309C>G (p.Asn103Lys) c.144C>G (p.Asn48Lys) c.279C>G (p.Asn93Lys) c.*178C>G (n.*178C>G) c.46G>C (p.Val16Leu) | |
| 11 | g.5254298G>T | CA379264087 | HBG2 | c.309C>A (p.Asn103Lys) c.144C>A (p.Asn48Lys) c.279C>A (p.Asn93Lys) c.*178C>A (n.*178C>A) c.46G>T (p.Val16Phe) | |
| 11 | g.5254299T>A | CA379264089 | HBG2 | c.308A>T (p.Asn103Ile) c.143A>T (p.Asn48Ile) c.278A>T (p.Asn93Ile) c.*177A>T (n.*177A>T) c.47T>A (p.Val16Asp) | |
| 11 | g.5254299T>C | CA379264088 | HBG2 | c.308A>G (p.Asn103Ser) c.143A>G (p.Asn48Ser) c.278A>G (p.Asn93Ser) c.*177A>G (n.*177A>G) c.47T>C (p.Val16Ala) | |
| 11 | g.5254299T>G | CA217121189 | HBG2 | c.308A>C (p.Asn103Thr) c.143A>C (p.Asn48Thr) c.278A>C (p.Asn93Thr) c.*177A>C (n.*177A>C) c.47T>G (p.Val16Gly) | dbSNP |
| 11 | g.5254299T= | CA1949577218 | HBG2 | c.308A= (p.Asn103=) c.143A= (p.Asn48=) c.278A= (p.Asn93=) c.*177A= (n.*177A=) c.47T= (p.Val16=) | |
| 11 | g.5254300T>A | CA379264090 | HBG2 | c.307A>T (p.Asn103Tyr) c.142A>T (p.Asn48Tyr) c.277A>T (p.Asn93Tyr) c.*176A>T (n.*176A>T) c.48T>A (p.Val16=) | |
| 11 | g.5254300T>C | CA379264091 | HBG2 | c.307A>G (p.Asn103Asp) c.142A>G (p.Asn48Asp) c.277A>G (p.Asn93Asp) c.*176A>G (n.*176A>G) c.48T>C (p.Val16=) | |
| 11 | g.5254300T>G | CA379264092 | HBG2 | c.307A>C (p.Asn103His) c.142A>C (p.Asn48His) c.277A>C (p.Asn93His) c.*176A>C (n.*176A>C) c.48T>G (p.Val16=) | |
| 11 | g.5254301C>A | CA379264093 | HBG2 | c.306G>T (p.Glu102Asp) c.141G>T (p.Glu47Asp) c.276G>T (p.Glu92Asp) c.*175G>T (n.*175G>T) c.49C>A (p.Leu17Ile) | COSMIC |
| 11 | g.5254301C>G | CA379264094 | HBG2 | c.306G>C (p.Glu102Asp) c.141G>C (p.Glu47Asp) c.276G>C (p.Glu92Asp) c.*175G>C (n.*175G>C) c.49C>G (p.Leu17Val) | |
| 11 | g.5254301C>T | CA379264095 | HBG2 | c.306G>A (p.Glu102=) c.141G>A (p.Glu47=) c.276G>A (p.Glu92=) c.*175G>A (n.*175G>A) c.49C>T (p.Leu17Phe) | |
| 11 | g.5254302T>A | CA379264096 | HBG2 | c.305A>T (p.Glu102Val) c.140A>T (p.Glu47Val) c.275A>T (p.Glu92Val) c.*174A>T (n.*174A>T) c.50T>A (p.Leu17His) | |
| 11 | g.5254302T>C | CA379264097 | HBG2 | c.305A>G (p.Glu102Gly) c.140A>G (p.Glu47Gly) c.275A>G (p.Glu92Gly) c.*174A>G (n.*174A>G) c.50T>C (p.Leu17Pro) | |
| 11 | g.5254302T>G | CA379264098 | HBG2 | c.305A>C (p.Glu102Ala) c.140A>C (p.Glu47Ala) c.275A>C (p.Glu92Ala) c.*174A>C (n.*174A>C) c.50T>G (p.Leu17Arg) | |
| 11 | g.5254303C>A | CA379264099 | HBG2 | c.304G>T (p.Glu102Ter) c.139G>T (p.Glu47Ter) c.274G>T (p.Glu92Ter) c.*173G>T (n.*173G>T) c.51C>A (p.Leu17=) | |
| 11 | g.5254303C= | CA1949577225 | HBG2 | c.304G= (p.Glu102=) c.139G= (p.Glu47=) c.274G= (p.Glu92=) c.*173G= (n.*173G=) c.51C= (p.Leu17=) | |
| 11 | g.5254303C>G | CA217121196 | HBG2 | c.304G>C (p.Glu102Gln) c.139G>C (p.Glu47Gln) c.274G>C (p.Glu92Gln) c.*173G>C (n.*173G>C) c.51C>G (p.Leu17=) | dbSNP gnomAD v4 |
| 11 | g.5254303C>T | CA124514 | HBG2 | c.304G>A (p.Glu102Lys) c.139G>A (p.Glu47Lys) c.274G>A (p.Glu92Lys) c.*173G>A (n.*173G>A) c.51C>T (p.Leu17=) | ClinVar dbSNP |
| 11 | g.5254304A= | CA1949577231 | HBG2 | c.303T= (p.Pro101=) c.138T= (p.Pro46=) c.273T= (p.Pro91=) c.*172T= (n.*172T=) c.52A= (p.Arg18=) | |
| 11 | g.5254304A>C | CA472633754 | HBG2 | c.303T>G (p.Pro101=) c.138T>G (p.Pro46=) c.273T>G (p.Pro91=) c.*172T>G (n.*172T>G) c.52A>C (p.Arg18=) | |
| 11 | g.5254304A>G | CA379264101 | HBG2 | c.303T>C (p.Pro101=) c.138T>C (p.Pro46=) c.273T>C (p.Pro91=) c.*172T>C (n.*172T>C) c.52A>G (p.Arg18Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |