Linked Data
gnomAD v2:
2-47639648-C-CAAAAAAA
MyVariant Identifiers:
chr2:g.47639648_47639649insAAAAAAA (hg19)
chr2:g.47412509_47412510insAAAAAAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47412514_47412515insAAAAAAA , CM000664.2:g.47412514_47412515insAAAAAAA | GRCh38 |
| NC_000002.11:g.47639653_47639654insAAAAAAA , CM000664.1:g.47639653_47639654insAAAAAAA | GRCh37 |
| NC_000002.10:g.47493157_47493158insAAAAAAA | NCBI36 |
| NG_007110.2:g.14391_14392insAAAAAAA , LRG_218:g.14391_14392insAAAAAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644900.2:c.746_747insAAAAAAA | ENSP00000495641.2:p.Gly250LysfsTer8 | |
| ENST00000233146.7:c.746_747insAAAAAAA MANE Select | ENSP00000233146.2:p.Gly250LysfsTer8 | |
| ENST00000543555.6:c.548_549insAAAAAAA | ENSP00000442697.1:p.Gly184LysfsTer8 | |
| ENST00000644092.1:c.746_747insAAAAAAA | ENSP00000496351.1:p.Gly250LysfsTer8 | |
| ENST00000645339.1:c.746_747insAAAAAAA | ENSP00000496441.1:p.Gly250LysfsTer8 | |
| ENST00000645506.1:c.746_747insAAAAAAA | ENSP00000495455.1:p.Gly250LysfsTer8 | |
| ENST00000646415.1:c.746_747insAAAAAAA | ENSP00000495543.1:p.Gly250LysfsTer8 | |
| ENST00000233146.6:c.746_747insAAAAAAA | ENSP00000233146.2:p.Gly250LysfsTer8 | |
| ENST00000406134.5:c.746_747insAAAAAAA | ENSP00000384199.1:p.Gly250LysfsTer8 | |
| ENST00000543555.5:c.548_549insAAAAAAA | ENSP00000442697.1:p.Gly184LysfsTer8 | |
| ENST00000610696.4:c.746_747insAAAAAAA | ENSP00000483159.1:p.Gly250LysfsTer8 | |
| ENST00000613514.4:c.746_747insAAAAAAA | ENSP00000484137.1:p.Gly250LysfsTer8 | |
| ENST00000617333.3:c.746_747insAAAAAAA | ENSP00000482468.1:p.Gly250LysfsTer8 | |
| ENST00000617938.4:c.746_747insAAAAAAA | ENSP00000481158.1:p.Gly250LysfsTer8 | |
| ENST00000621359.2:c.746_747insAAAAAAA | ENSP00000481416.1:p.Gly250LysfsTer8 | |
| NM_000251.2:c.746_747insAAAAAAA , LRG_218t1:c.746_747insAAAAAAA | NP_000242.1:p.Gly250LysfsTer8 | |
| NM_001258281.1:c.548_549insAAAAAAA | NP_001245210.1:p.Gly184LysfsTer8 | |
| XM_005264332.2:c.746_747insAAAAAAA | XP_005264389.2:p.Gly250LysfsTer8 | |
| XM_011532867.1:c.746_747insAAAAAAA | XP_011531169.1:p.Gly250LysfsTer8 | |
| XR_939685.1:n.818_819insAAAAAAA | ||
| XM_005264332.4:c.746_747insAAAAAAA | XP_005264389.2:p.Gly250LysfsTer8 | |
| XM_011532867.2:c.746_747insAAAAAAA | XP_011531169.1:p.Gly250LysfsTer8 | |
| XR_001738747.2:n.808_809insAAAAAAA | ||
| XR_939685.2:n.808_809insAAAAAAA | ||
| NM_000251.3:c.746_747insAAAAAAA MANE Select | NP_000242.1:p.Gly250LysfsTer8 |