Linked Data
dbSNP Id:
rs150065962
MyVariant Identifiers:
chr2:g.20189058_20189059insCCCC (hg19)
chr2:g.19989297_19989298insCCCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.19989298_19989299insCCCC , CM000664.2:g.19989298_19989299insCCCC | GRCh38 |
| NC_000002.11:g.20189059_20189060insCCCC , CM000664.1:g.20189059_20189060insCCCC | GRCh37 |
| NC_000002.10:g.20052540_20052541insCCCC | NCBI36 |
| NG_021212.1:g.5826_5827insGGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281405.9:c.25-16_25-15insGGGG MANE Select | ENSP00000281405.5:n.25-16_25-15insGGGG | |
| ENST00000345530.8:c.25-16_25-15insGGGG MANE Plus Clinical | ENSP00000314444.5:n.25-16_25-15insGGGG | |
| ENST00000281405.8:c.25-16_25-15insGGGG | ENSP00000281405.4:n.25-16_25-15insGGGG | |
| ENST00000345530.7:c.25-16_25-15insGGGG | ENSP00000314444.5:n.25-16_25-15insGGGG | |
| ENST00000414212.5:c.25-16_25-15insGGGG | ENSP00000390802.1:n.25-16_25-15insGGGG | |
| NM_001006657.1:c.25-16_25-15insGGGG | NP_001006658.1:n.25-16_25-15insGGGG | |
| NM_020779.3:c.25-16_25-15insGGGG | NP_065830.2:n.25-16_25-15insGGGG | |
| XR_426989.2:n.58-16_58-15insGGGG | ||
| XR_939699.1:n.58-16_58-15insGGGG | ||
| XR_001738862.1:n.58-16_58-15insGGGG | ||
| XR_426989.3:n.58-16_58-15insGGGG | ||
| XR_939699.3:n.58-16_58-15insGGGG | ||
| NM_001006657.2:c.25-16_25-15insGGGG MANE Plus Clinical | NP_001006658.1:n.25-16_25-15insGGGG | |
| NM_020779.4:c.25-16_25-15insGGGG MANE Select | NP_065830.2:n.25-16_25-15insGGGG |