Linked Data
ClinVar Variation Id:
126973
ClinVar RCV Id:
RCV000114834
dbSNP Id:
rs121908831
MyVariant Identifiers:
chr2:g.96919623_96919636dupTCTCTGAGAGCAGC (hg19)
chr2:g.96919622_96919623insTCTCTGAGAGCAGC (hg19)
chr2:g.96253885_96253898dupTCTCTGAGAGCAGC (hg38)
chr2:g.96253884_96253885insTCTCTGAGAGCAGC (hg38)
PubMed:
PMID:21156949
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96253887_96253900dup , CM000664.2:g.96253887_96253900dup | GRCh38 |
| NC_000002.11:g.96919625_96919638dup , CM000664.1:g.96919625_96919638dup | GRCh37 |
| NC_000002.10:g.96283352_96283365dup | NCBI36 |
| NG_027695.1:g.17116_17129dup , LRG_528:g.17116_17129dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258439.8:c.627_640dup MANE Select | ENSP00000258439.3:p.Met214SerfsTer? | |
| ENST00000258439.7:c.627_640dup | ENSP00000258439.2:p.Met214SerfsTer? | |
| ENST00000432959.1:c.627_640dup | ENSP00000416660.1:p.Met214SerfsTer? | |
| ENST00000435268.1:c.375_388dup | ENSP00000411810.1:p.Met130SerfsTer? | |
| NM_001193304.2:c.627_640dup | NP_001180233.1:p.Met214SerfsTer? | |
| NM_017849.3:c.627_640dup , LRG_528t1:c.627_640dup | NP_060319.1:p.Met214SerfsTer? | |
| XM_017004450.1:c.-292_-279dup | XP_016859939.1:n.-292_-279dup | |
| XM_017004452.1:c.375_388dup | XP_016859941.1:p.Met130SerfsTer? | |
| NM_001193304.3:c.627_640dup | NP_001180233.1:p.Met214SerfsTer? | |
| NM_017849.4:c.627_640dup MANE Select | NP_060319.1:p.Met214SerfsTer? |