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.
Linked Data
ClinVar Variation Id:
281475
ClinVar RCV Id:
RCV000271134
dbSNP Id:
rs386654705
MyVariant Identifiers:
chr2:g.211456637_211456639delinsTCT (hg19)
chr2:g.210591913_210591915delinsTCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.210591913_210591915delinsTCT , CM000664.2:g.210591913_210591915delinsTCT | GRCh38 |
| NC_000002.11:g.211456637_211456639delinsTCT , CM000664.1:g.211456637_211456639delinsTCT | GRCh37 |
| NC_000002.10:g.211164882_211164884delinsTCT | NCBI36 |
| NG_008285.1:g.119229_119231delinsTCT , LRG_336:g.119229_119231delinsTCT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000233072.10:c.1030_1032delinsTCT MANE Select | ENSP00000233072.5:p.Thr344Ser | |
| ENST00000430249.7:c.1048_1050delinsTCT | ENSP00000402608.2:p.Thr350Ser | |
| ENST00000673510.1:c.1030_1032delinsTCT | ENSP00000500537.1:p.Thr344Ser | |
| ENST00000673630.1:c.1030_1032delinsTCT | ENSP00000501073.1:p.Thr344Ser | |
| ENST00000673711.1:c.1030_1032delinsTCT | ENSP00000501022.1:p.Thr344Ser | |
| ENST00000233072.9:c.1030_1032delinsTCT | ENSP00000233072.5:p.Thr344Ser | |
| ENST00000430249.6:c.1048_1050delinsTCT | ENSP00000402608.2:p.Thr350Ser | |
| ENST00000619804.1:c.1030_1032delinsTCT | ENSP00000480517.1:p.Thr344Ser | |
| NM_001122633.2:c.1048_1050delinsTCT | NP_001116105.1:p.Thr350Ser | |
| NM_001875.4:c.1030_1032delinsTCT , LRG_336t1:c.1030_1032delinsTCT | NP_001866.2:p.Thr344Ser | |
| XM_011510640.1:c.1063_1065delinsTCT | XP_011508942.1:p.Thr355Ser | |
| XM_011510641.1:c.1030_1032delinsTCT | XP_011508943.1:p.Thr344Ser | |
| XM_011510642.1:c.1030_1032delinsTCT | XP_011508944.1:p.Thr344Ser | |
| XM_011510643.1:c.1030_1032delinsTCT | XP_011508945.1:p.Thr344Ser | |
| XM_011510644.1:c.1030_1032delinsTCT | XP_011508946.1:p.Thr344Ser | |
| NM_001122633.3:c.1030_1032delinsTCT | NP_001116105.2:p.Thr344Ser | |
| NM_001369256.1:c.1063_1065delinsTCT | NP_001356185.1:p.Thr355Ser | |
| NM_001369257.1:c.1030_1032delinsTCT | NP_001356186.1:p.Thr344Ser | |
| NM_001875.5:c.1030_1032delinsTCT MANE Select | NP_001866.2:p.Thr344Ser | |
| NR_161225.1:n.1942_1944delinsTCT |