Linked Data
dbSNP Id:
rs1339141732
gnomAD v2:
2-135893288-A-AAATAACATTTAT
MyVariant Identifiers:
chr2:g.135893288_135893289insAATAACATTTAT (hg19)
chr2:g.135135718_135135719insAATAACATTTAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135135718_135135719insAATAACATTTAT , CM000664.2:g.135135718_135135719insAATAACATTTAT | GRCh38 |
| NC_000002.11:g.135893288_135893289insAATAACATTTAT , CM000664.1:g.135893288_135893289insAATAACATTTAT | GRCh37 |
| NC_000002.10:g.135609758_135609759insAATAACATTTAT | NCBI36 |
| NG_016972.1:g.88454_88455insAATAACATTTAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539493.3:c.1709_1710insAATAACATTTAT | ENSP00000444306.2:p.Glu570_Val571insIleThrPheMet | |
| ENST00000685967.1:c.*1166_*1167insAATAACATTTAT | ENSP00000508423.1:n.*1166_*1167insAATAACATTTAT | |
| ENST00000686114.1:n.2055_2056insAATAACATTTAT | ||
| ENST00000687199.1:c.*1777_*1778insAATAACATTTAT | ENSP00000510319.1:n.*1777_*1778insAATAACATTTAT | |
| ENST00000688088.1:n.1728_1729insAATAACATTTAT | ||
| ENST00000688182.1:c.151-31975_151-31974insAATAACATTTAT | ENSP00000509324.1:n.151-31975_151-31974insAATAACATTTAT | |
| ENST00000689880.1:n.1728_1729insAATAACATTTAT | ||
| ENST00000690208.1:c.*1387_*1388insAATAACATTTAT | ENSP00000510746.1:n.*1387_*1388insAATAACATTTAT | |
| ENST00000690785.1:n.1728_1729insAATAACATTTAT | ||
| ENST00000691339.1:c.*1332_*1333insAATAACATTTAT | ENSP00000509953.1:n.*1332_*1333insAATAACATTTAT | |
| ENST00000691478.1:c.*1808_*1809insAATAACATTTAT | ENSP00000509081.1:n.*1808_*1809insAATAACATTTAT | |
| ENST00000693554.1:c.1709_1710insAATAACATTTAT | ENSP00000509030.1:p.Glu570_Val571insIleThrPheMet | |
| ENST00000264158.13:c.1709_1710insAATAACATTTAT MANE Select | ENSP00000264158.8:p.Glu570_Val571insIleThrPheMet | |
| ENST00000264158.12:c.1709_1710insAATAACATTTAT | ENSP00000264158.7:p.Glu570_Val571insIleThrPheMet | |
| ENST00000442034.5:c.1709_1710insAATAACATTTAT | ENSP00000411418.1:p.Glu570_Val571insIleThrPheMet | |
| ENST00000487003.5:n.1778_1779insAATAACATTTAT | ||
| ENST00000539493.2:c.1577_1578insAATAACATTTAT | ENSP00000444306.1:p.Glu526_Val527insIleThrPheMet | |
| NM_001172435.1:c.1709_1710insAATAACATTTAT | NP_001165906.1:p.Glu570_Val571insIleThrPheMet | |
| NM_012233.2:c.1709_1710insAATAACATTTAT | NP_036365.1:p.Glu570_Val571insIleThrPheMet | |
| XM_011510822.1:c.1709_1710insAATAACATTTAT | XP_011509124.1:p.Glu570_Val571insIleThrPheMet | |
| XM_011510823.1:c.1709_1710insAATAACATTTAT | XP_011509125.1:p.Glu570_Val571insIleThrPheMet | |
| XM_011510824.1:c.1709_1710insAATAACATTTAT | XP_011509126.1:p.Glu570_Val571insIleThrPheMet | |
| XM_011510825.1:c.1709_1710insAATAACATTTAT | XP_011509127.1:p.Glu570_Val571insIleThrPheMet | |
| XM_011510823.3:c.1709_1710insAATAACATTTAT | XP_011509125.1:p.Glu570_Val571insIleThrPheMet | |
| XM_011510825.3:c.1709_1710insAATAACATTTAT | XP_011509127.1:p.Glu570_Val571insIleThrPheMet | |
| XR_001738674.2:n.1736_1737insAATAACATTTAT | ||
| NM_001172435.2:c.1709_1710insAATAACATTTAT | NP_001165906.1:p.Glu570_Val571insIleThrPheMet | |
| NM_012233.3:c.1709_1710insAATAACATTTAT MANE Select | NP_036365.1:p.Glu570_Val571insIleThrPheMet |