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 |
|---|---|---|---|---|---|
| 14 | g.50269178T>A | CA389650184 | L2HGDH | c.891A>T (p.Lys297Asn) c.780A>T (p.Lys260Asn) c.756A>T (p.Lys252Asn) c.345A>T (p.Lys115Asn) | |
| 14 | g.50269178T>C | CA486175791 | L2HGDH | c.891A>G (p.Lys297=) c.780A>G (p.Lys260=) c.756A>G (p.Lys252=) c.345A>G (p.Lys115=) | |
| 14 | g.50269178T>G | CA389650186 | L2HGDH | c.891A>C (p.Lys297Asn) c.780A>C (p.Lys260Asn) c.756A>C (p.Lys252Asn) c.345A>C (p.Lys115Asn) | |
| 14 | g.50269179T>A | CA389650188 | L2HGDH | c.890A>T (p.Lys297Ile) c.779A>T (p.Lys260Ile) c.755A>T (p.Lys252Ile) c.344A>T (p.Lys115Ile) | |
| 14 | g.50269179T>C | CA389650190 | L2HGDH | c.890A>G (p.Lys297Arg) c.779A>G (p.Lys260Arg) c.755A>G (p.Lys252Arg) c.344A>G (p.Lys115Arg) | |
| 14 | g.50269179T>G | CA260739948 | L2HGDH | c.890A>C (p.Lys297Thr) c.779A>C (p.Lys260Thr) c.755A>C (p.Lys252Thr) c.344A>C (p.Lys115Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.50269179T= | CA2136124065 | L2HGDH | c.890A= (p.Lys297=) c.779A= (p.Lys260=) c.755A= (p.Lys252=) c.344A= (p.Lys115=) | |
| 14 | g.50269180T>A | CA389650194 | L2HGDH | c.889A>T (p.Lys297Ter) c.778A>T (p.Lys260Ter) c.754A>T (p.Lys252Ter) c.343A>T (p.Lys115Ter) | |
| 14 | g.50269180T>C | CA389650196 | L2HGDH | c.889A>G (p.Lys297Glu) c.778A>G (p.Lys260Glu) c.754A>G (p.Lys252Glu) c.343A>G (p.Lys115Glu) | |
| 14 | g.50269180T>G | CA389650198 | L2HGDH | c.889A>C (p.Lys297Gln) c.778A>C (p.Lys260Gln) c.754A>C (p.Lys252Gln) c.343A>C (p.Lys115Gln) | |
| 14 | g.50269181T>A | CA486175792 | L2HGDH | c.888A>T (p.Val296=) c.777A>T (p.Val259=) c.753A>T (p.Val251=) c.342A>T (p.Val114=) | |
| 14 | g.50269181T>C | CA486175793 | L2HGDH | c.888A>G (p.Val296=) c.777A>G (p.Val259=) c.753A>G (p.Val251=) c.342A>G (p.Val114=) | |
| 14 | g.50269181T>G | CA486175794 | L2HGDH | c.888A>C (p.Val296=) c.777A>C (p.Val259=) c.753A>C (p.Val251=) c.342A>C (p.Val114=) | |
| 14 | g.50269182A= | CA2136124066 | L2HGDH | c.887T= (p.Val296=) c.776T= (p.Val259=) c.752T= (p.Val251=) c.341T= (p.Val114=) | |
| 14 | g.50269182A>C | CA389650201 | L2HGDH | c.887T>G (p.Val296Gly) c.776T>G (p.Val259Gly) c.752T>G (p.Val251Gly) c.341T>G (p.Val114Gly) | |
| 14 | g.50269182A>G | CA7177868 | L2HGDH | c.887T>C (p.Val296Ala) c.776T>C (p.Val259Ala) c.752T>C (p.Val251Ala) c.341T>C (p.Val114Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50269182A>T | CA389650200 | L2HGDH | c.887T>A (p.Val296Glu) c.776T>A (p.Val259Glu) c.752T>A (p.Val251Glu) c.341T>A (p.Val114Glu) | |
| 14 | g.50269183C>A | CA389650208 | L2HGDH | c.886G>T (p.Val296Leu) c.775G>T (p.Val259Leu) c.751G>T (p.Val251Leu) c.340G>T (p.Val114Leu) | |
| 14 | g.50269183C>G | CA389650204 | L2HGDH | c.886G>C (p.Val296Leu) c.775G>C (p.Val259Leu) c.751G>C (p.Val251Leu) c.340G>C (p.Val114Leu) | |
| 14 | g.50269183C>T | CA389650206 | L2HGDH | c.886G>A (p.Val296Ile) c.775G>A (p.Val259Ile) c.751G>A (p.Val251Ile) c.340G>A (p.Val114Ile) | gnomAD v4 |
| 14 | g.50269184A>C | CA486175795 | L2HGDH | c.885T>G (p.Leu295=) c.774T>G (p.Leu258=) c.750T>G (p.Leu250=) c.339T>G (p.Leu113=) | |
| 14 | g.50269184A>G | CA486175796 | L2HGDH | c.885T>C (p.Leu295=) c.774T>C (p.Leu258=) c.750T>C (p.Leu250=) c.339T>C (p.Leu113=) | |
| 14 | g.50269184A>T | CA486175797 | L2HGDH | c.885T>A (p.Leu295=) c.774T>A (p.Leu258=) c.750T>A (p.Leu250=) c.339T>A (p.Leu113=) | |
| 14 | g.50269185A>C | CA389650210 | L2HGDH | c.884T>G (p.Leu295Arg) c.773T>G (p.Leu258Arg) c.749T>G (p.Leu250Arg) c.338T>G (p.Leu113Arg) | |
| 14 | g.50269185A>G | CA389650212 | L2HGDH | c.884T>C (p.Leu295Pro) c.773T>C (p.Leu258Pro) c.749T>C (p.Leu250Pro) c.338T>C (p.Leu113Pro) | |
| 14 | g.50269185A>T | CA389650213 | L2HGDH | c.884T>A (p.Leu295His) c.773T>A (p.Leu258His) c.749T>A (p.Leu250His) c.338T>A (p.Leu113His) | |
| 14 | g.50269186G>A | CA389650215 | L2HGDH | c.883C>T (p.Leu295Phe) c.772C>T (p.Leu258Phe) c.748C>T (p.Leu250Phe) c.337C>T (p.Leu113Phe) | |
| 14 | g.50269186G>C | CA389650217 | L2HGDH | c.883C>G (p.Leu295Val) c.772C>G (p.Leu258Val) c.748C>G (p.Leu250Val) c.337C>G (p.Leu113Val) | |
| 14 | g.50269186G>T | CA389650219 | L2HGDH | c.883C>A (p.Leu295Ile) c.772C>A (p.Leu258Ile) c.748C>A (p.Leu250Ile) c.337C>A (p.Leu113Ile) | |
| 14 | g.50269187A>C | CA389650221 | L2HGDH | c.882T>G (p.Tyr294Ter) c.771T>G (p.Tyr257Ter) c.747T>G (p.Tyr249Ter) c.336T>G (p.Tyr112Ter) | |
| 14 | g.50269187A>G | CA486175798 | L2HGDH | c.882T>C (p.Tyr294=) c.771T>C (p.Tyr257=) c.747T>C (p.Tyr249=) c.336T>C (p.Tyr112=) | gnomAD v4 |
| 14 | g.50269187A>T | CA389650223 | L2HGDH | c.882T>A (p.Tyr294Ter) c.771T>A (p.Tyr257Ter) c.747T>A (p.Tyr249Ter) c.336T>A (p.Tyr112Ter) | |
| 14 | g.50269188T>A | CA389650224 | L2HGDH | c.881A>T (p.Tyr294Phe) c.770A>T (p.Tyr257Phe) c.746A>T (p.Tyr249Phe) c.335A>T (p.Tyr112Phe) | |
| 14 | g.50269188T>C | CA260739959 | L2HGDH | c.881A>G (p.Tyr294Cys) c.770A>G (p.Tyr257Cys) c.746A>G (p.Tyr249Cys) c.335A>G (p.Tyr112Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.50269188T>G | CA389650226 | L2HGDH | c.881A>C (p.Tyr294Ser) c.770A>C (p.Tyr257Ser) c.746A>C (p.Tyr249Ser) c.335A>C (p.Tyr112Ser) | |
| 14 | g.50269188T= | CA2136124067 | L2HGDH | c.881A= (p.Tyr294=) c.770A= (p.Tyr257=) c.746A= (p.Tyr249=) c.335A= (p.Tyr112=) | |
| 14 | g.50269189A>C | CA389650232 | L2HGDH | c.880T>G (p.Tyr294Asp) c.769T>G (p.Tyr257Asp) c.745T>G (p.Tyr249Asp) c.334T>G (p.Tyr112Asp) | |
| 14 | g.50269189A>G | CA389650230 | L2HGDH | c.880T>C (p.Tyr294His) c.769T>C (p.Tyr257His) c.745T>C (p.Tyr249His) c.334T>C (p.Tyr112His) | gnomAD v4 |
| 14 | g.50269189A>T | CA389650228 | L2HGDH | c.880T>A (p.Tyr294Asn) c.769T>A (p.Tyr257Asn) c.745T>A (p.Tyr249Asn) c.334T>A (p.Tyr112Asn) | |
| 14 | g.50269190A= | CA2136124068 | L2HGDH | c.879T= (p.Cys293=) c.768T= (p.Cys256=) c.744T= (p.Cys248=) c.333T= (p.Cys111=) | |
| 14 | g.50269190A>C | CA389650234 | L2HGDH | c.879T>G (p.Cys293Trp) c.768T>G (p.Cys256Trp) c.744T>G (p.Cys248Trp) c.333T>G (p.Cys111Trp) | |
| 14 | g.50269190A>G | CA7177869 | L2HGDH | c.879T>C (p.Cys293=) c.768T>C (p.Cys256=) c.744T>C (p.Cys248=) c.333T>C (p.Cys111=) | dbSNP ExAC gnomAD v4 |
| 14 | g.50269190A>T | CA389650236 | L2HGDH | c.879T>A (p.Cys293Ter) c.768T>A (p.Cys256Ter) c.744T>A (p.Cys248Ter) c.333T>A (p.Cys111Ter) | |
| 14 | g.50269191C>A | CA389650238 | L2HGDH | c.878G>T (p.Cys293Phe) c.767G>T (p.Cys256Phe) c.743G>T (p.Cys248Phe) c.332G>T (p.Cys111Phe) | |
| 14 | g.50269191C= | CA2136124069 | L2HGDH | c.878G= (p.Cys293=) c.767G= (p.Cys256=) c.743G= (p.Cys248=) c.332G= (p.Cys111=) | |
| 14 | g.50269191C>G | CA7177870 | L2HGDH | c.878G>C (p.Cys293Ser) c.767G>C (p.Cys256Ser) c.743G>C (p.Cys248Ser) c.332G>C (p.Cys111Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.50269191C>T | CA389650240 | L2HGDH | c.878G>A (p.Cys293Tyr) c.767G>A (p.Cys256Tyr) c.743G>A (p.Cys248Tyr) c.332G>A (p.Cys111Tyr) | gnomAD v4 |
| 14 | g.50269192A>C | CA389650243 | L2HGDH | c.877T>G (p.Cys293Gly) c.766T>G (p.Cys256Gly) c.742T>G (p.Cys248Gly) c.331T>G (p.Cys111Gly) | |
| 14 | g.50269192A>G | CA389650244 | L2HGDH | c.877T>C (p.Cys293Arg) c.766T>C (p.Cys256Arg) c.742T>C (p.Cys248Arg) c.331T>C (p.Cys111Arg) | gnomAD v4 |
| 14 | g.50269192A>T | CA389650246 | L2HGDH | c.877T>A (p.Cys293Ser) c.766T>A (p.Cys256Ser) c.742T>A (p.Cys248Ser) c.331T>A (p.Cys111Ser) |