Linked Data
dbSNP Id:
rs1310667376
gnomAD v2:
2-25457178-A-AGCGAAGAGGTG
gnomAD v4:
2-25234309-A-AGCGAAGAGGTG
MyVariant Identifiers:
chr2:g.25457178_25457179insGCGAAGAGGTG (hg19)
chr2:g.25234309_25234310insGCGAAGAGGTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.25234313_25234323dup , CM000664.2:g.25234313_25234323dup | GRCh38 |
| NC_000002.11:g.25457182_25457192dup , CM000664.1:g.25457182_25457192dup | GRCh37 |
| NC_000002.10:g.25310686_25310696dup | NCBI36 |
| NG_029465.2:g.113271_113281dup , LRG_459:g.113271_113281dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474887.6:c.947_957dup | ||
| ENST00000683393.1:c.1844_1854dup | ENSP00000508654.1:n.1844_1854dup | |
| ENST00000683760.1:c.2029_2039dup | ENSP00000507765.1:p.Pro681ThrfsTer6 | |
| ENST00000321117.10:c.2698_2708dup MANE Select | ENSP00000324375.5:p.Pro904ThrfsTer6 | |
| ENST00000264709.7:c.2698_2708dup | ENSP00000264709.3:p.Pro904ThrfsTer6 | |
| ENST00000321117.9:c.2698_2708dup | ENSP00000324375.5:p.Pro904ThrfsTer6 | |
| ENST00000380746.8:c.2131_2141dup | ENSP00000370122.4:p.Pro715ThrfsTer6 | |
| ENST00000380756.7:c.*551_*561dup | ENSP00000370132.3:n.*551_*561dup | |
| ENST00000402667.1:c.2029_2039dup | ENSP00000384237.1:p.Pro681ThrfsTer6 | |
| NM_022552.4:c.2698_2708dup , LRG_459t1:c.2698_2708dup | NP_072046.2:p.Pro904ThrfsTer6 | |
| NM_153759.3:c.2131_2141dup , LRG_459t2:c.2131_2141dup | NP_715640.2:p.Pro715ThrfsTer6 | |
| NM_175629.2:c.2698_2708dup , LRG_459t4:c.2698_2708dup | NP_783328.1:p.Pro904ThrfsTer6 | |
| XM_005264175.3:c.2698_2708dup | XP_005264232.1:p.Pro904ThrfsTer6 | |
| XM_005264177.3:c.2029_2039dup | XP_005264234.1:p.Pro681ThrfsTer6 | |
| XM_006711958.2:c.2254_2264dup | XP_006712021.1:p.Pro756ThrfsTer6 | |
| XM_011532662.1:c.2551_2561dup | XP_011530964.1:p.Pro855ThrfsTer6 | |
| XM_011532663.1:c.2533_2543dup | XP_011530965.1:p.Pro849ThrfsTer6 | |
| XM_011532665.1:c.2242_2252dup | XP_011530967.1:p.Pro752ThrfsTer6 | |
| XM_011532666.1:c.2170_2180dup | XP_011530968.1:p.Pro728ThrfsTer6 | |
| XM_011532667.1:c.2029_2039dup | XP_011530969.1:p.Pro681ThrfsTer6 | |
| NM_001320893.1:c.2242_2252dup | NP_001307822.1:p.Pro752ThrfsTer6 | |
| NR_135490.1:n.3235_3245dup | ||
| XM_005264175.5:c.2698_2708dup | XP_005264232.1:p.Pro904ThrfsTer6 | |
| XM_005264177.4:c.2029_2039dup | XP_005264234.1:p.Pro681ThrfsTer6 | |
| XM_011532662.2:c.2551_2561dup | XP_011530964.1:p.Pro855ThrfsTer6 | |
| XM_011532663.2:c.2533_2543dup | XP_011530965.1:p.Pro849ThrfsTer6 | |
| XM_011532666.2:c.2170_2180dup | XP_011530968.1:p.Pro728ThrfsTer6 | |
| XM_011532667.3:c.2029_2039dup | XP_011530969.1:p.Pro681ThrfsTer6 | |
| XM_017003526.1:c.2698_2708dup | XP_016859015.1:p.Pro904ThrfsTer6 | |
| XM_017003527.1:c.2029_2039dup | XP_016859016.1:p.Pro681ThrfsTer6 | |
| XR_001738657.1:n.2905_2915dup | ||
| NM_001375819.1:c.2029_2039dup | NP_001362748.1:p.Pro681ThrfsTer6 | |
| NR_135490.2:n.3128_3138dup | ||
| NM_022552.5:c.2698_2708dup MANE Select | NP_072046.2:p.Pro904ThrfsTer6 |