Linked Data
ClinVar Variation Id:
417895
ClinVar RCV Id:
RCV000477877
dbSNP Id:
rs1553509010
MyVariant Identifiers:
chr2:g.211438104_211438111dupAAGTGGTT (hg19)
chr2:g.210573380_210573387dupAAGTGGTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.210573380_210573387dup , CM000664.2:g.210573380_210573387dup | GRCh38 |
| NC_000002.11:g.211438104_211438111dup , CM000664.1:g.211438104_211438111dup | GRCh37 |
| NC_000002.10:g.211146349_211146356dup | NCBI36 |
| NG_008285.1:g.100696_100703dup , LRG_336:g.100696_100703dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233072.10:c.209_216dup MANE Select | ENSP00000233072.5:p.Phe73LysfsTer? | |
| ENST00000430249.7:c.227_234dup | ENSP00000402608.2:p.Phe79LysfsTer? | |
| ENST00000673510.1:c.209_216dup | ENSP00000500537.1:p.Phe73LysfsTer? | |
| ENST00000673630.1:c.209_216dup | ENSP00000501073.1:p.Phe73LysfsTer? | |
| ENST00000673711.1:c.209_216dup | ENSP00000501022.1:p.Phe73LysfsTer? | |
| ENST00000233072.9:c.209_216dup | ENSP00000233072.5:p.Phe73LysfsTer? | |
| ENST00000417946.5:c.209_216dup | ENSP00000388496.1:p.Phe73LysfsTer? | |
| ENST00000430249.6:c.227_234dup | ENSP00000402608.2:p.Phe79LysfsTer? | |
| ENST00000518043.5:c.209_216dup | ENSP00000430697.1:p.Phe73LysfsTer? | |
| ENST00000523702.5:c.227_234dup | ENSP00000430644.1:p.Phe79LysfsTer? | |
| ENST00000619804.1:c.209_216dup | ENSP00000480517.1:p.Phe73LysfsTer? | |
| NM_001122633.2:c.227_234dup | NP_001116105.1:p.Phe79LysfsTer? | |
| NM_001875.4:c.209_216dup , LRG_336t1:c.209_216dup | NP_001866.2:p.Phe73LysfsTer? | |
| XM_011510640.1:c.242_249dup | XP_011508942.1:p.Phe84LysfsTer? | |
| XM_011510641.1:c.209_216dup | XP_011508943.1:p.Phe73LysfsTer? | |
| XM_011510642.1:c.209_216dup | XP_011508944.1:p.Phe73LysfsTer? | |
| XM_011510643.1:c.209_216dup | XP_011508945.1:p.Phe73LysfsTer? | |
| XM_011510644.1:c.209_216dup | XP_011508946.1:p.Phe73LysfsTer? | |
| NM_001122633.3:c.209_216dup | NP_001116105.2:p.Phe73LysfsTer? | |
| NM_001369256.1:c.242_249dup | NP_001356185.1:p.Phe84LysfsTer? | |
| NM_001369257.1:c.209_216dup | NP_001356186.1:p.Phe73LysfsTer? | |
| NM_001875.5:c.209_216dup MANE Select | NP_001866.2:p.Phe73LysfsTer? | |
| NR_161225.1:n.1121_1128dup |