Linked Data
ClinVar Variation Id:
13256
ClinVar RCV Id:
RCV000014164
dbSNP Id:
rs730880319
gnomAD v2:
2-98354245-TCAAGTGGTACGCA-T
gnomAD v4:
2-97737782-TCAAGTGGTACGCA-T
MyVariant Identifiers:
chr2:g.98354247_98354259del (hg19)
chr2:g.98354246_98354258del (hg19)
chr2:g.97737784_97737796del (hg38)
chr2:g.97737783_97737795del (hg38)
PubMed:
PMID:8202712
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.97737784_97737796del , CM000664.2:g.97737784_97737796del | GRCh38 |
| NC_000002.11:g.98354247_98354259del , CM000664.1:g.98354247_98354259del | GRCh37 |
| NC_000002.10:g.97720679_97720691del | NCBI36 |
| NG_007727.1:g.29217_29229del , LRG_126:g.29217_29229del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698508.1:c.1510_1522del | ENSP00000513759.1:p.Lys504ProfsTer? | |
| ENST00000698509.1:n.1650_1662del | ||
| ENST00000264972.10:c.1510_1522del MANE Select | ENSP00000264972.5:p.Lys504ProfsTer? | |
| ENST00000264972.9:c.1510_1522del | ENSP00000264972.5:p.Lys504ProfsTer? | |
| ENST00000451498.2:c.589_601del | ENSP00000400475.2:p.Lys197ProfsTer? | |
| ENST00000463643.5:n.1371_1383del | ||
| ENST00000487283.5:n.2562_2574del | ||
| ENST00000495754.1:n.448_460del | ||
| NM_001079.3:c.1510_1522del , LRG_126t1:c.1510_1522del | NP_001070.2:p.Lys504ProfsTer? | |
| NM_207519.1:c.589_601del | NP_997402.1:p.Lys197ProfsTer? | |
| XM_005264015.3:c.1492_1504del | XP_005264072.1:p.Lys498ProfsTer? | |
| XM_006712728.2:c.1510_1522del | XP_006712791.1:p.Lys504ProfsTer? | |
| XM_011511783.1:c.1510_1522del | XP_011510085.1:p.Lys504ProfsTer? | |
| XR_923018.1:n.1712_1724del | ||
| XR_923019.1:n.1712_1724del | ||
| XR_923020.1:n.1712_1724del | ||
| XM_017004867.1:c.1879_1891del | XP_016860356.1:p.Lys627ProfsTer? | |
| XM_017004868.1:c.1861_1873del | XP_016860357.1:p.Lys621ProfsTer? | |
| XM_017004869.1:c.1879_1891del | XP_016860358.1:p.Lys627ProfsTer? | |
| XM_017004870.1:c.1879_1891del | XP_016860359.1:p.Lys627ProfsTer? | |
| XR_001738925.1:n.3118_3130del | ||
| XR_001738926.1:n.3118_3130del | ||
| XR_001738927.1:n.3118_3130del | ||
| NM_001079.4:c.1510_1522del MANE Select | NP_001070.2:p.Lys504ProfsTer? | |
| NM_001378594.1:c.1510_1522del | NP_001365523.1:p.Lys504ProfsTer? | |
| NM_207519.2:c.589_601del | NP_997402.1:p.Lys197ProfsTer? |