Linked Data
dbSNP Id:
rs1451744174
gnomAD v3:
2-178711089-A-AAGC
gnomAD v4:
2-178711089-A-AAGC
MyVariant Identifiers:
chr2:g.179575816_179575817insAGC (hg19)
chr2:g.178711089_178711090insAGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178711092_178711094dup , CM000664.2:g.178711092_178711094dup | GRCh38 |
| NC_000002.11:g.179575819_179575821dup , CM000664.1:g.179575819_179575821dup | GRCh37 |
| NC_000002.10:g.179284064_179284066dup | NCBI36 |
| NG_011618.3:g.124711_124713dup , LRG_391:g.124711_124713dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.24412_24414dup | ENSP00000343764.6:p.Ala8138_Ser8139insAla | |
| ENST00000342175.11:c.13858+26990_13858+26992dup | ENSP00000340554.6:n.13858+26990_13858+26992dup | |
| ENST00000359218.10:c.13657+26990_13657+26992dup | ENSP00000352154.5:n.13657+26990_13657+26992dup | |
| ENST00000342175.10:c.13858+26990_13858+26992dup | ENSP00000340554.6:n.13858+26990_13858+26992dup | |
| ENST00000342992.10:c.24412_24414dup | ENSP00000343764.6:p.Ala8138_Ser8139insAla | |
| ENST00000359218.9:c.13657+26990_13657+26992dup | ENSP00000352154.5:n.13657+26990_13657+26992dup | |
| ENST00000460472.6:c.13282+26990_13282+26992dup | ENSP00000434586.1:n.13282+26990_13282+26992dup | |
| ENST00000589042.5:c.28144_28146dup MANE Select | ENSP00000467141.1:p.Ala9382_Ser9383insAla | |
| ENST00000591111.5:c.27193_27195dup | ENSP00000465570.1:p.Ala9065_Ser9066insAla | |
| ENST00000615779.4:c.27193_27195dup | ENSP00000483597.1:p.Ala9065_Ser9066insAla | |
| NM_001256850.1:c.27193_27195dup | NP_001243779.1:p.Ala9065_Ser9066insAla | |
| NM_001267550.2:c.28144_28146dup MANE Select | NP_001254479.2:p.Ala9382_Ser9383insAla | |
| NM_003319.4:c.13282+26990_13282+26992dup | NP_003310.4:n.13282+26990_13282+26992dup | |
| NM_133378.4:c.24412_24414dup | NP_596869.4:p.Ala8138_Ser8139insAla | |
| NM_133432.3:c.13657+26990_13657+26992dup | NP_597676.3:n.13657+26990_13657+26992dup | |
| NM_133437.4:c.13858+26990_13858+26992dup | NP_597681.4:n.13858+26990_13858+26992dup | |
| XM_011511729.1:c.27241_27243dup | XP_011510031.1:p.Ala9081_Ser9082insAla | |
| XM_011511730.1:c.13468+26990_13468+26992dup | XP_011510032.1:n.13468+26990_13468+26992dup | |
| XM_011511731.1:c.13327+26990_13327+26992dup | XP_011510033.1:n.13327+26990_13327+26992dup | |
| XM_017004819.1:c.27196_27198dup | XP_016860308.1:p.Ala9066_Ser9067insAla | |
| XM_017004820.1:c.24415_24417dup | XP_016860309.1:p.Ala8139_Ser8140insAla | |
| XM_017004821.1:c.24412_24414dup | XP_016860310.1:p.Ala8138_Ser8139insAla | |
| XM_017004822.1:c.27196_27198dup | XP_016860311.1:p.Ala9066_Ser9067insAla | |
| XM_017004823.1:c.13423+26990_13423+26992dup | XP_016860312.1:n.13423+26990_13423+26992dup | |
| XM_024453094.1:c.27196_27198dup | XP_024308862.1:p.Ala9066_Ser9067insAla | |
| XM_024453095.1:c.27196_27198dup | XP_024308863.1:p.Ala9066_Ser9067insAla | |
| XM_024453096.1:c.27196_27198dup | XP_024308864.1:p.Ala9066_Ser9067insAla | |
| XM_024453097.1:c.27196_27198dup | XP_024308865.1:p.Ala9066_Ser9067insAla | |
| XM_024453098.1:c.27196_27198dup | XP_024308866.1:p.Ala9066_Ser9067insAla | |
| XM_024453099.1:c.13423+26990_13423+26992dup | XP_024308867.1:n.13423+26990_13423+26992dup |