Linked Data
ClinVar Variation Id:
403731
dbSNP Id:
rs770642379
ExAC:
2:143797998 TCTTTAAG / T
gnomAD v2:
2-143797998-TCTTTAAG-T
gnomAD v3:
2-143040429-TCTTTAAG-T
gnomAD v4:
2-143040429-TCTTTAAG-T
MyVariant Identifiers:
chr2:g.143798000_143798006del (hg19)
chr2:g.143797999_143798005del (hg19)
chr2:g.143040431_143040437del (hg38)
chr2:g.143040430_143040436del (hg38)
PubMed:
PMID:28792876
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.143040431_143040437del , CM000664.2:g.143040431_143040437del | GRCh38 |
| NC_000002.11:g.143798000_143798006del , CM000664.1:g.143798000_143798006del | GRCh37 |
| NC_000002.10:g.143514470_143514476del | NCBI36 |
| NG_023254.1:g.167806_167812del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264170.9:c.1045_1051del MANE Select | ENSP00000264170.4:p.Phe349LysfsTer4 | |
| ENST00000264170.8:c.1045_1051del | ENSP00000264170.4:p.Phe349LysfsTer4 | |
| ENST00000409512.5:c.1045_1051del | ENSP00000386731.1:p.Phe349LysfsTer4 | |
| NM_001199241.1:c.1045_1051del | NP_001186170.1:p.Phe349LysfsTer4 | |
| NM_003937.2:c.1045_1051del | NP_003928.1:p.Phe349LysfsTer4 | |
| XM_011512101.1:c.1045_1051del | XP_011510403.1:p.Phe349LysfsTer4 | |
| XM_011512102.1:c.646_652del | XP_011510404.1:p.Phe216LysfsTer4 | |
| XM_011512103.1:c.646_652del | XP_011510405.1:p.Phe216LysfsTer4 | |
| XM_011512104.1:c.646_652del | XP_011510406.1:p.Phe216LysfsTer4 | |
| XM_011512105.1:c.646_652del | XP_011510407.1:p.Phe216LysfsTer4 | |
| XR_923058.1:n.1275_1281del | ||
| XM_011512102.2:c.646_652del | XP_011510404.1:p.Phe216LysfsTer4 | |
| XM_024453208.1:c.1045_1051del | XP_024308976.1:p.Phe349LysfsTer4 | |
| NM_003937.3:c.1045_1051del MANE Select | NP_003928.1:p.Phe349LysfsTer4 | |
| NM_001199241.2:c.1045_1051del | NP_001186170.1:p.Phe349LysfsTer4 |