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 |
|---|---|---|---|---|---|
| 6 | g.129402367A>C | CA365616159 | LAMA2 | c.5606A>C (p.Glu1869Ala) c.5870A>C (p.Glu1957Ala) c.5876A>C (p.Glu1959Ala) c.4001A>C (p.Glu1334Ala) | |
| 6 | g.129402367A>G | CA365616161 | LAMA2 | c.5606A>G (p.Glu1869Gly) c.5870A>G (p.Glu1957Gly) c.5876A>G (p.Glu1959Gly) c.4001A>G (p.Glu1334Gly) | |
| 6 | g.129402367A>T | CA365616163 | LAMA2 | c.5606A>T (p.Glu1869Val) c.5870A>T (p.Glu1957Val) c.5876A>T (p.Glu1959Val) c.4001A>T (p.Glu1334Val) | |
| 6 | g.129402368G>A | CA451926222 | LAMA2 | c.5607G>A (p.Glu1869=) c.5871G>A (p.Glu1957=) c.5877G>A (p.Glu1959=) c.4002G>A (p.Glu1334=) | |
| 6 | g.129402368G>C | CA365616164 | LAMA2 | c.5607G>C (p.Glu1869Asp) c.5871G>C (p.Glu1957Asp) c.5877G>C (p.Glu1959Asp) c.4002G>C (p.Glu1334Asp) | |
| 6 | g.129402368G>T | CA365616165 | LAMA2 | c.5607G>T (p.Glu1869Asp) c.5871G>T (p.Glu1957Asp) c.5877G>T (p.Glu1959Asp) c.4002G>T (p.Glu1334Asp) | |
| 6 | g.129402369C>A | CA146891512 | LAMA2 | c.5608C>A (p.Leu1870Ile) c.5872C>A (p.Leu1958Ile) c.5878C>A (p.Leu1960Ile) c.4003C>A (p.Leu1335Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.129402369C= | CA1663131580 | LAMA2 | c.5608C= (p.Leu1870=) c.5872C= (p.Leu1958=) c.5878C= (p.Leu1960=) c.4003C= (p.Leu1335=) | |
| 6 | g.129402369C>G | CA365616168 | LAMA2 | c.5608C>G (p.Leu1870Val) c.5872C>G (p.Leu1958Val) c.5878C>G (p.Leu1960Val) c.4003C>G (p.Leu1335Val) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129402369C>T | CA365616169 | LAMA2 | c.5608C>T (p.Leu1870Phe) c.5872C>T (p.Leu1958Phe) c.5878C>T (p.Leu1960Phe) c.4003C>T (p.Leu1335Phe) | gnomAD v4 |
| 6 | g.129402370T>A | CA365616172 | LAMA2 | c.5609T>A (p.Leu1870His) c.5873T>A (p.Leu1958His) c.5879T>A (p.Leu1960His) c.4004T>A (p.Leu1335His) | |
| 6 | g.129402370T>C | CA365616174 | LAMA2 | c.5609T>C (p.Leu1870Pro) c.5873T>C (p.Leu1958Pro) c.5879T>C (p.Leu1960Pro) c.4004T>C (p.Leu1335Pro) | gnomAD v4 |
| 6 | g.129402370T>G | CA365616176 | LAMA2 | c.5609T>G (p.Leu1870Arg) c.5873T>G (p.Leu1958Arg) c.5879T>G (p.Leu1960Arg) c.4004T>G (p.Leu1335Arg) | |
| 6 | g.129402371T>A | CA451926229 | LAMA2 | c.5610T>A (p.Leu1870=) c.5874T>A (p.Leu1958=) c.5880T>A (p.Leu1960=) c.4005T>A (p.Leu1335=) | |
| 6 | g.129402371T>C | CA451926230 | LAMA2 | c.5610T>C (p.Leu1870=) c.5874T>C (p.Leu1958=) c.5880T>C (p.Leu1960=) c.4005T>C (p.Leu1335=) | |
| 6 | g.129402371T>G | CA451926233 | LAMA2 | c.5610T>G (p.Leu1870=) c.5874T>G (p.Leu1958=) c.5880T>G (p.Leu1960=) c.4005T>G (p.Leu1335=) | |
| 6 | g.129402372A>C | CA365616183 | LAMA2 | c.5611A>C (p.Asn1871His) c.5875A>C (p.Asn1959His) c.5881A>C (p.Asn1961His) c.4006A>C (p.Asn1336His) | |
| 6 | g.129402372A>G | CA365616181 | LAMA2 | c.5611A>G (p.Asn1871Asp) c.5875A>G (p.Asn1959Asp) c.5881A>G (p.Asn1961Asp) c.4006A>G (p.Asn1336Asp) | |
| 6 | g.129402372A>T | CA365616179 | LAMA2 | c.5611A>T (p.Asn1871Tyr) c.5875A>T (p.Asn1959Tyr) c.5881A>T (p.Asn1961Tyr) c.4006A>T (p.Asn1336Tyr) | gnomAD v4 |
| 6 | g.129402373A= | CA1663131583 | LAMA2 | c.5612A= (p.Asn1871=) c.5876A= (p.Asn1959=) c.5882A= (p.Asn1961=) c.4007A= (p.Asn1336=) | |
| 6 | g.129402373A>C | CA365616185 | LAMA2 | c.5612A>C (p.Asn1871Thr) c.5876A>C (p.Asn1959Thr) c.5882A>C (p.Asn1961Thr) c.4007A>C (p.Asn1336Thr) | |
| 6 | g.129402373A>G | CA146891519 | LAMA2 | c.5612A>G (p.Asn1871Ser) c.5876A>G (p.Asn1959Ser) c.5882A>G (p.Asn1961Ser) c.4007A>G (p.Asn1336Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129402373A>T | CA365616188 | LAMA2 | c.5612A>T (p.Asn1871Ile) c.5876A>T (p.Asn1959Ile) c.5882A>T (p.Asn1961Ile) c.4007A>T (p.Asn1336Ile) | |
| 6 | g.129402374T>A | CA365616190 | LAMA2 | c.5613T>A (p.Asn1871Lys) c.5877T>A (p.Asn1959Lys) c.5883T>A (p.Asn1961Lys) c.4008T>A (p.Asn1336Lys) | gnomAD v4 |
| 6 | g.129402374T>C | CA451926245 | LAMA2 | c.5613T>C (p.Asn1871=) c.5877T>C (p.Asn1959=) c.5883T>C (p.Asn1961=) c.4008T>C (p.Asn1336=) | |
| 6 | g.129402374T>G | CA365616191 | LAMA2 | c.5613T>G (p.Asn1871Lys) c.5877T>G (p.Asn1959Lys) c.5883T>G (p.Asn1961Lys) c.4008T>G (p.Asn1336Lys) | |
| 6 | g.129402375G>A | CA365616192 | LAMA2 | c.5614G>A (p.Asp1872Asn) c.5878G>A (p.Asp1960Asn) c.5884G>A (p.Asp1962Asn) c.4009G>A (p.Asp1337Asn) | |
| 6 | g.129402375G>C | CA365616193 | LAMA2 | c.5614G>C (p.Asp1872His) c.5878G>C (p.Asp1960His) c.5884G>C (p.Asp1962His) c.4009G>C (p.Asp1337His) | |
| 6 | g.129402375G= | CA1663131584 | LAMA2 | c.5614G= (p.Asp1872=) c.5878G= (p.Asp1960=) c.5884G= (p.Asp1962=) c.4009G= (p.Asp1337=) | |
| 6 | g.129402375G>T | CA3993937 | LAMA2 | c.5614G>T (p.Asp1872Tyr) c.5878G>T (p.Asp1960Tyr) c.5884G>T (p.Asp1962Tyr) c.4009G>T (p.Asp1337Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129402376A= | CA1663131587 | LAMA2 | c.5615A= (p.Asp1872=) c.5879A= (p.Asp1960=) c.5885A= (p.Asp1962=) c.4010A= (p.Asp1337=) | |
| 6 | g.129402376A>C | CA365616194 | LAMA2 | c.5615A>C (p.Asp1872Ala) c.5879A>C (p.Asp1960Ala) c.5885A>C (p.Asp1962Ala) c.4010A>C (p.Asp1337Ala) | |
| 6 | g.129402376A>G | CA365616195 | LAMA2 | c.5615A>G (p.Asp1872Gly) c.5879A>G (p.Asp1960Gly) c.5885A>G (p.Asp1962Gly) c.4010A>G (p.Asp1337Gly) | dbSNP |
| 6 | g.129402376A>T | CA365616197 | LAMA2 | c.5615A>T (p.Asp1872Val) c.5879A>T (p.Asp1960Val) c.5885A>T (p.Asp1962Val) c.4010A>T (p.Asp1337Val) | |
| 6 | g.129402377T>A | CA365616199 | LAMA2 | c.5616T>A (p.Asp1872Glu) c.5880T>A (p.Asp1960Glu) c.5886T>A (p.Asp1962Glu) c.4011T>A (p.Asp1337Glu) | |
| 6 | g.129402377T>C | CA451926255 | LAMA2 | c.5616T>C (p.Asp1872=) c.5880T>C (p.Asp1960=) c.5886T>C (p.Asp1962=) c.4011T>C (p.Asp1337=) | |
| 6 | g.129402377T>G | CA365616201 | LAMA2 | c.5616T>G (p.Asp1872Glu) c.5880T>G (p.Asp1960Glu) c.5886T>G (p.Asp1962Glu) c.4011T>G (p.Asp1337Glu) | gnomAD v4 |
| 6 | g.129402378A>C | CA365616205 | LAMA2 | c.5617A>C (p.Lys1873Gln) c.5881A>C (p.Lys1961Gln) c.5887A>C (p.Lys1963Gln) c.4012A>C (p.Lys1338Gln) | gnomAD v4 |
| 6 | g.129402378A>G | CA365616207 | LAMA2 | c.5617A>G (p.Lys1873Glu) c.5881A>G (p.Lys1961Glu) c.5887A>G (p.Lys1963Glu) c.4012A>G (p.Lys1338Glu) | gnomAD v4 |
| 6 | g.129402378A>T | CA365616204 | LAMA2 | c.5617A>T (p.Lys1873Ter) c.5881A>T (p.Lys1961Ter) c.5887A>T (p.Lys1963Ter) c.4012A>T (p.Lys1338Ter) | |
| 6 | g.129402379A>C | CA365616215 | LAMA2 | c.5618A>C (p.Lys1873Thr) c.5882A>C (p.Lys1961Thr) c.5888A>C (p.Lys1963Thr) c.4013A>C (p.Lys1338Thr) | |
| 6 | g.129402379A>G | CA365616216 | LAMA2 | c.5618A>G (p.Lys1873Arg) c.5882A>G (p.Lys1961Arg) c.5888A>G (p.Lys1963Arg) c.4013A>G (p.Lys1338Arg) | |
| 6 | g.129402379A>T | CA365616219 | LAMA2 | c.5618A>T (p.Lys1873Ile) c.5882A>T (p.Lys1961Ile) c.5888A>T (p.Lys1963Ile) c.4013A>T (p.Lys1338Ile) | |
| 6 | g.129402380A>C | CA365616221 | LAMA2 | c.5619A>C (p.Lys1873Asn) c.5883A>C (p.Lys1961Asn) c.5889A>C (p.Lys1963Asn) c.4014A>C (p.Lys1338Asn) | |
| 6 | g.129402380A>G | CA451926267 | LAMA2 | c.5619A>G (p.Lys1873=) c.5883A>G (p.Lys1961=) c.5889A>G (p.Lys1963=) c.4014A>G (p.Lys1338=) | |
| 6 | g.129402380A>T | CA365616222 | LAMA2 | c.5619A>T (p.Lys1873Asn) c.5883A>T (p.Lys1961Asn) c.5889A>T (p.Lys1963Asn) c.4014A>T (p.Lys1338Asn) | gnomAD v4 |
| 6 | g.129402381A= | CA1663131590 | LAMA2 | c.5620A= (p.Ile1874=) c.5884A= (p.Ile1962=) c.5890A= (p.Ile1964=) c.4015A= (p.Ile1339=) | |
| 6 | g.129402381A>C | CA365616225 | LAMA2 | c.5620A>C (p.Ile1874Leu) c.5884A>C (p.Ile1962Leu) c.5890A>C (p.Ile1964Leu) c.4015A>C (p.Ile1339Leu) | |
| 6 | g.129402381A>G | CA365616227 | LAMA2 | c.5620A>G (p.Ile1874Val) c.5884A>G (p.Ile1962Val) c.5890A>G (p.Ile1964Val) c.4015A>G (p.Ile1339Val) | |
| 6 | g.129402381A>T | CA365616229 | LAMA2 | c.5620A>T (p.Ile1874Leu) c.5884A>T (p.Ile1962Leu) c.5890A>T (p.Ile1964Leu) c.4015A>T (p.Ile1339Leu) |