Linked Data
dbSNP Id:
rs1258479381
gnomAD v2:
2-47639299-C-CAAAAA
MyVariant Identifiers:
chr2:g.47639299_47639300insAAAAA (hg19)
chr2:g.47412160_47412161insAAAAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47412164_47412165insAAAAA , CM000664.2:g.47412164_47412165insAAAAA | GRCh38 |
| NC_000002.11:g.47639303_47639304insAAAAA , CM000664.1:g.47639303_47639304insAAAAA | GRCh37 |
| NC_000002.10:g.47492807_47492808insAAAAA | NCBI36 |
| NG_007110.2:g.14041_14042insAAAAA , LRG_218:g.14041_14042insAAAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644900.2:c.646-250_646-249insAAAAA | ENSP00000495641.2:n.646-250_646-249insAAAAA | |
| ENST00000233146.7:c.646-250_646-249insAAAAA MANE Select | ENSP00000233146.2:n.646-250_646-249insAAAAA | |
| ENST00000543555.6:c.448-250_448-249insAAAAA | ENSP00000442697.1:n.448-250_448-249insAAAAA | |
| ENST00000644092.1:c.646-250_646-249insAAAAA | ENSP00000496351.1:n.646-250_646-249insAAAAA | |
| ENST00000645339.1:c.646-250_646-249insAAAAA | ENSP00000496441.1:n.646-250_646-249insAAAAA | |
| ENST00000645506.1:c.646-250_646-249insAAAAA | ENSP00000495455.1:n.646-250_646-249insAAAAA | |
| ENST00000646415.1:c.646-250_646-249insAAAAA | ENSP00000495543.1:n.646-250_646-249insAAAAA | |
| ENST00000233146.6:c.646-250_646-249insAAAAA | ENSP00000233146.2:n.646-250_646-249insAAAAA | |
| ENST00000406134.5:c.646-250_646-249insAAAAA | ENSP00000384199.1:n.646-250_646-249insAAAAA | |
| ENST00000543555.5:c.448-250_448-249insAAAAA | ENSP00000442697.1:n.448-250_448-249insAAAAA | |
| ENST00000610696.4:c.646-250_646-249insAAAAA | ENSP00000483159.1:n.646-250_646-249insAAAAA | |
| ENST00000613514.4:c.646-250_646-249insAAAAA | ENSP00000484137.1:n.646-250_646-249insAAAAA | |
| ENST00000617333.3:c.646-250_646-249insAAAAA | ENSP00000482468.1:n.646-250_646-249insAAAAA | |
| ENST00000617938.4:c.646-250_646-249insAAAAA | ENSP00000481158.1:n.646-250_646-249insAAAAA | |
| ENST00000621359.2:c.646-250_646-249insAAAAA | ENSP00000481416.1:n.646-250_646-249insAAAAA | |
| NM_000251.2:c.646-250_646-249insAAAAA , LRG_218t1:c.646-250_646-249insAAAAA | NP_000242.1:n.646-250_646-249insAAAAA | |
| NM_001258281.1:c.448-250_448-249insAAAAA | NP_001245210.1:n.448-250_448-249insAAAAA | |
| XM_005264332.2:c.646-250_646-249insAAAAA | XP_005264389.2:n.646-250_646-249insAAAAA | |
| XM_011532867.1:c.646-250_646-249insAAAAA | XP_011531169.1:n.646-250_646-249insAAAAA | |
| XR_939685.1:n.718-250_718-249insAAAAA | ||
| XM_005264332.4:c.646-250_646-249insAAAAA | XP_005264389.2:n.646-250_646-249insAAAAA | |
| XM_011532867.2:c.646-250_646-249insAAAAA | XP_011531169.1:n.646-250_646-249insAAAAA | |
| XR_001738747.2:n.708-250_708-249insAAAAA | ||
| XR_939685.2:n.708-250_708-249insAAAAA | ||
| NM_000251.3:c.646-250_646-249insAAAAA MANE Select | NP_000242.1:n.646-250_646-249insAAAAA |