Linked Data
ClinVar Variation Id:
672
ClinVar RCV Id:
RCV000000707
dbSNP Id:
rs1558715857
gnomAD v4:
2-127426101-G-GTT
MyVariant Identifiers:
chr2:g.128183677_128183678insTT (hg19)
chr2:g.127426101_127426102insTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127426101_127426102insTT , CM000664.2:g.127426101_127426102insTT | GRCh38 |
| NC_000002.11:g.128183677_128183678insTT , CM000664.1:g.128183677_128183678insTT | GRCh37 |
| NC_000002.10:g.127900147_127900148insTT | NCBI36 |
| NG_016323.1:g.12682_12683insTT , LRG_599:g.12682_12683insTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234071.8:c.552_553insTT MANE Select | ENSP00000234071.4:p.Arg185LeufsTer14 | |
| ENST00000234071.7:c.552_553insTT | ENSP00000234071.3:p.Arg185LeufsTer14 | |
| ENST00000402125.2:c.121-2256_121-2255insTT | ||
| ENST00000409048.1:c.654_655insTT | ENSP00000386679.1:p.Arg219LeufsTer14 | |
| ENST00000442644.5:c.495_496insTT | ENSP00000411241.1:p.Arg166LeufsTer? | |
| ENST00000464089.1:n.138_139insTT | ||
| NM_000312.3:c.552_553insTT , LRG_599t1:c.552_553insTT | NP_000303.1:p.Arg185LeufsTer14 | |
| XM_005263715.3:c.735_736insTT | XP_005263772.1:p.Arg246LeufsTer14 | |
| XM_005263716.3:c.717_718insTT | XP_005263773.1:p.Arg240LeufsTer14 | |
| XM_005263717.3:c.615_616insTT | XP_005263774.1:p.Arg206LeufsTer14 | |
| XM_005263717.4:c.615_616insTT | XP_005263774.1:p.Arg206LeufsTer14 | |
| XM_017004505.1:c.795_796insTT | XP_016859994.1:p.Arg266LeufsTer14 | |
| XM_024453002.1:c.897_898insTT | XP_024308770.1:p.Arg300LeufsTer14 | |
| XM_024453003.1:c.837_838insTT | XP_024308771.1:p.Arg280LeufsTer14 | |
| XM_024453004.1:c.735_736insTT | XP_024308772.1:p.Arg246LeufsTer14 | |
| XM_024453005.1:c.717_718insTT | XP_024308773.1:p.Arg240LeufsTer14 | |
| XM_024453006.1:c.654_655insTT | XP_024308774.1:p.Arg219LeufsTer14 | |
| XR_923313.2:n.4483_4484insAA | ||
| NM_000312.4:c.552_553insTT MANE Select | NP_000303.1:p.Arg185LeufsTer14 | |
| NM_001375602.1:c.735_736insTT | NP_001362531.1:p.Arg246LeufsTer14 | |
| NM_001375603.1:c.717_718insTT | NP_001362532.1:p.Arg240LeufsTer14 | |
| NM_001375604.1:c.615_616insTT | NP_001362533.1:p.Arg206LeufsTer14 | |
| NM_001375605.1:c.654_655insTT | NP_001362534.1:p.Arg219LeufsTer14 | |
| NM_001375606.1:c.720_721insTT | NP_001362535.1:p.Arg241LeufsTer14 | |
| NM_001375607.1:c.738_739insTT | NP_001362536.1:p.Arg247LeufsTer14 | |
| NM_001375608.1:c.495_496insTT | NP_001362537.1:p.Arg166LeufsTer14 | |
| NM_001375609.1:c.528_529insTT | NP_001362538.1:p.Arg177LeufsTer14 | |
| NM_001375610.1:c.546_547insTT | NP_001362539.1:p.Arg183LeufsTer14 | |
| NM_001375611.1:c.552_553insTT | NP_001362540.1:p.Arg185LeufsTer14 | |
| NM_001375613.1:c.552_553insTT | NP_001362542.1:p.Arg185LeufsTer14 |