Linked Data
dbSNP Id:
rs1391092334
gnomAD v3:
2-135135714-G-GGAGA
gnomAD v4:
2-135135714-G-GGAGA
MyVariant Identifiers:
chr2:g.135893284_135893285insGAGA (hg19)
chr2:g.135135714_135135715insGAGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135135716_135135719dup , CM000664.2:g.135135716_135135719dup | GRCh38 |
| NC_000002.11:g.135893286_135893289dup , CM000664.1:g.135893286_135893289dup | GRCh37 |
| NC_000002.10:g.135609756_135609759dup | NCBI36 |
| NG_016972.1:g.88452_88455dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539493.3:c.1707_1710dup | ENSP00000444306.2:p.Val571ArgfsTer11 | |
| ENST00000685967.1:c.*1164_*1167dup | ENSP00000508423.1:n.*1164_*1167dup | |
| ENST00000686114.1:n.2053_2056dup | ||
| ENST00000687199.1:c.*1775_*1778dup | ENSP00000510319.1:n.*1775_*1778dup | |
| ENST00000688088.1:n.1726_1729dup | ||
| ENST00000688182.1:c.151-31977_151-31974dup | ENSP00000509324.1:n.151-31977_151-31974dup | |
| ENST00000689880.1:n.1726_1729dup | ||
| ENST00000690208.1:c.*1385_*1388dup | ENSP00000510746.1:n.*1385_*1388dup | |
| ENST00000690785.1:n.1726_1729dup | ||
| ENST00000691339.1:c.*1330_*1333dup | ENSP00000509953.1:n.*1330_*1333dup | |
| ENST00000691478.1:c.*1806_*1809dup | ENSP00000509081.1:n.*1806_*1809dup | |
| ENST00000693554.1:c.1707_1710dup | ENSP00000509030.1:p.Val571ArgfsTer11 | |
| ENST00000264158.13:c.1707_1710dup MANE Select | ENSP00000264158.8:p.Val571ArgfsTer11 | |
| ENST00000264158.12:c.1707_1710dup | ENSP00000264158.7:p.Val571ArgfsTer11 | |
| ENST00000442034.5:c.1707_1710dup | ENSP00000411418.1:p.Val571ArgfsTer11 | |
| ENST00000487003.5:n.1776_1779dup | ||
| ENST00000539493.2:c.1575_1578dup | ENSP00000444306.1:p.Val527ArgfsTer11 | |
| NM_001172435.1:c.1707_1710dup | NP_001165906.1:p.Val571ArgfsTer11 | |
| NM_012233.2:c.1707_1710dup | NP_036365.1:p.Val571ArgfsTer11 | |
| XM_011510822.1:c.1707_1710dup | XP_011509124.1:p.Val571ArgfsTer11 | |
| XM_011510823.1:c.1707_1710dup | XP_011509125.1:p.Val571ArgfsTer11 | |
| XM_011510824.1:c.1707_1710dup | XP_011509126.1:p.Val571ArgfsTer11 | |
| XM_011510825.1:c.1707_1710dup | XP_011509127.1:p.Val571ArgfsTer11 | |
| XM_011510823.3:c.1707_1710dup | XP_011509125.1:p.Val571ArgfsTer11 | |
| XM_011510825.3:c.1707_1710dup | XP_011509127.1:p.Val571ArgfsTer11 | |
| XR_001738674.2:n.1734_1737dup | ||
| NM_001172435.2:c.1707_1710dup | NP_001165906.1:p.Val571ArgfsTer11 | |
| NM_012233.3:c.1707_1710dup MANE Select | NP_036365.1:p.Val571ArgfsTer11 |