Linked Data
dbSNP Id:
rs1269183982
gnomAD v2:
2-208994506-A-ACCTT
gnomAD v4:
2-208129782-A-ACCTT
MyVariant Identifiers:
chr2:g.208994506_208994507insCCTT (hg19)
chr2:g.208129782_208129783insCCTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208129785_208129788dup , CM000664.2:g.208129785_208129788dup | GRCh38 |
| NC_000002.11:g.208994509_208994512dup , CM000664.1:g.208994509_208994512dup | GRCh37 |
| NC_000002.10:g.208702754_208702757dup | NCBI36 |
| NG_008038.1:g.5045_5048dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282141.4:c.7_9+1dup | ||
| ENST00000282141.3:c.7_9+1dup | ||
| NM_020989.3:c.7_9+1dup | ||
| NR_038437.1:n.98-7271_98-7268dup | ||
| XM_011510661.1:c.7_9+1dup | ||
| XM_011510662.1:c.7_9+1dup | ||
| XM_011510663.1:c.-120-103_-120-100dup | XP_011508965.1:n.-120-103_-120-100dup | |
| NM_020989.4:c.7_9+1dup |