Linked Data
ClinVar Variation Id:
264655
ClinVar RCV Id:
RCV000247659
dbSNP Id:
rs886039223
MyVariant Identifiers:
chr2:g.203329629_203329630dupAT (hg19)
chr2:g.202464906_202464907dupAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202464906_202464907dup , CM000664.2:g.202464906_202464907dup | GRCh38 |
| NC_000002.11:g.203329629_203329630dup , CM000664.1:g.203329629_203329630dup | GRCh37 |
| NC_000002.10:g.203037874_203037875dup | NCBI36 |
| NG_009363.1:g.93580_93581dup , LRG_712:g.93580_93581dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.174_175dup MANE Select | ENSP00000363708.4:p.Leu59TyrfsTer20 | |
| ENST00000638587.1:c.99_100dup | ENSP00000491062.1:p.Leu34TyrfsTer20 | |
| ENST00000374574.2:c.174_175dup | ENSP00000363702.2:p.Leu59TyrfsTer20 | |
| ENST00000374580.8:c.174_175dup | ENSP00000363708.4:p.Leu59TyrfsTer20 | |
| ENST00000479069.1:n.81_82dup | ||
| NM_001204.6:c.174_175dup , LRG_712t1:c.174_175dup | NP_001195.2:p.Leu59TyrfsTer20 | |
| XM_011511687.1:c.174_175dup | XP_011509989.1:p.Leu59TyrfsTer20 | |
| XM_011511688.1:c.174_175dup | XP_011509990.1:p.Leu59TyrfsTer20 | |
| NM_001204.7:c.174_175dup MANE Select | NP_001195.2:p.Leu59TyrfsTer20 |