Linked Data
ClinVar Variation Id:
405188
dbSNP Id:
rs1553893826
gnomAD v3:
2-178713381-T-TACAATACAAA
gnomAD v4:
2-178713381-T-TACAATACAAA
MyVariant Identifiers:
chr2:g.179578108_179578109insACAATACAAA (hg19)
chr2:g.178713381_178713382insACAATACAAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178713385_178713386insTACAAAACAA , CM000664.2:g.178713385_178713386insTACAAAACAA | GRCh38 |
| NC_000002.11:g.179578112_179578113insTACAAAACAA , CM000664.1:g.179578112_179578113insTACAAAACAA | GRCh37 |
| NC_000002.10:g.179286357_179286358insTACAAAACAA | NCBI36 |
| NG_011618.3:g.122421_122422insTTTGTATTGT , LRG_391:g.122421_122422insTTTGTATTGT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.23030-10_23030-9insTTTGTATTGT | ENSP00000343764.6:n.23030-10_23030-9insTT... | |
| ENST00000342175.11:c.13858+24700_13858+24701insTTTGTATTGT | ENSP00000340554.6:n.13858+24700_13858+247... | |
| ENST00000359218.10:c.13657+24700_13657+24701insTTTGTATTGT | ENSP00000352154.5:n.13657+24700_13657+247... | |
| ENST00000342175.10:c.13858+24700_13858+24701insTTTGTATTGT | ENSP00000340554.6:n.13858+24700_13858+247... | |
| ENST00000342992.10:c.23030-10_23030-9insTTTGTATTGT | ENSP00000343764.6:n.23030-10_23030-9insTT... | |
| ENST00000359218.9:c.13657+24700_13657+24701insTTTGTATTGT | ENSP00000352154.5:n.13657+24700_13657+247... | |
| ENST00000460472.6:c.13282+24700_13282+24701insTTTGTATTGT | ENSP00000434586.1:n.13282+24700_13282+247... | |
| ENST00000589042.5:c.26762-10_26762-9insTTTGTATTGT MANE Select | ENSP00000467141.1:n.26762-10_26762-9insTT... | |
| ENST00000591111.5:c.25811-10_25811-9insTTTGTATTGT | ENSP00000465570.1:n.25811-10_25811-9insTT... | |
| ENST00000615779.4:c.25811-10_25811-9insTTTGTATTGT | ENSP00000483597.1:n.25811-10_25811-9insTT... | |
| NM_001256850.1:c.25811-10_25811-9insTTTGTATTGT | NP_001243779.1:n.25811-10_25811-9insTTTGT... | |
| NM_001267550.2:c.26762-10_26762-9insTTTGTATTGT MANE Select | NP_001254479.2:n.26762-10_26762-9insTTTGT... | |
| NM_003319.4:c.13282+24700_13282+24701insTTTGTATTGT | NP_003310.4:n.13282+24700_13282+24701insT... | |
| NM_133378.4:c.23030-10_23030-9insTTTGTATTGT | NP_596869.4:n.23030-10_23030-9insTTTGTATT... | |
| NM_133432.3:c.13657+24700_13657+24701insTTTGTATTGT | NP_597676.3:n.13657+24700_13657+24701insT... | |
| NM_133437.4:c.13858+24700_13858+24701insTTTGTATTGT | NP_597681.4:n.13858+24700_13858+24701insT... | |
| XM_011511729.1:c.25859-10_25859-9insTTTGTATTGT | XP_011510031.1:n.25859-10_25859-9insTTTGT... | |
| XM_011511730.1:c.13468+24700_13468+24701insTTTGTATTGT | XP_011510032.1:n.13468+24700_13468+24701i... | |
| XM_011511731.1:c.13327+24700_13327+24701insTTTGTATTGT | XP_011510033.1:n.13327+24700_13327+24701i... | |
| XM_017004819.1:c.25814-10_25814-9insTTTGTATTGT | XP_016860308.1:n.25814-10_25814-9insTTTGT... | |
| XM_017004820.1:c.23033-10_23033-9insTTTGTATTGT | XP_016860309.1:n.23033-10_23033-9insTTTGT... | |
| XM_017004821.1:c.23030-10_23030-9insTTTGTATTGT | XP_016860310.1:n.23030-10_23030-9insTTTGT... | |
| XM_017004822.1:c.25814-10_25814-9insTTTGTATTGT | XP_016860311.1:n.25814-10_25814-9insTTTGT... | |
| XM_017004823.1:c.13423+24700_13423+24701insTTTGTATTGT | XP_016860312.1:n.13423+24700_13423+24701i... | |
| XM_024453094.1:c.25814-10_25814-9insTTTGTATTGT | XP_024308862.1:n.25814-10_25814-9insTTTGT... | |
| XM_024453095.1:c.25814-10_25814-9insTTTGTATTGT | XP_024308863.1:n.25814-10_25814-9insTTTGT... | |
| XM_024453096.1:c.25814-10_25814-9insTTTGTATTGT | XP_024308864.1:n.25814-10_25814-9insTTTGT... | |
| XM_024453097.1:c.25814-10_25814-9insTTTGTATTGT | XP_024308865.1:n.25814-10_25814-9insTTTGT... | |
| XM_024453098.1:c.25814-10_25814-9insTTTGTATTGT | XP_024308866.1:n.25814-10_25814-9insTTTGT... | |
| XM_024453099.1:c.13423+24700_13423+24701insTTTGTATTGT | XP_024308867.1:n.13423+24700_13423+24701i... |