Canonical Allele Identifier: CA163196
Gene: PIEZO2 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.10671730G>A , CM000680.2:g.10671730G>A GRCh38
NC_000018.9:g.10671727G>A , CM000680.1:g.10671727G>A GRCh37
NC_000018.8:g.10661727G>A NCBI36
NG_034005.1:g.482033C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000383408.7:c.*1497C>T ENSP00000372900.4:n.*1497C>T
ENST00000685517.1:n.3138C>T
ENST00000691469.1:n.2293C>T
ENST00000693743.1:c.1591C>T ENSP00000510331.1:n.1591C>T
ENST00000674853.1:c.8395C>T MANE Select ENSP00000501957.1:p.Arg2799Cys
ENST00000302079.10:c.7867C>T ENSP00000303316.6:p.Arg2623Cys
ENST00000383408.6:c.7909C>T ENSP00000372900.3:p.Arg2637Cys
ENST00000503781.7:c.8056C>T ENSP00000421377.3:p.Arg2686Cys
ENST00000538948.5:c.1927C>T ENSP00000443129.1:p.Arg643Cys
ENST00000580640.5:c.8131C>T ENSP00000463094.1:p.Arg2711Cys
ENST00000581680.1:n.532C>T
ENST00000582913.5:c.8262C>T ENSP00000462115.1:n.8262C>T
ENST00000582937.1:c.58+960C>T ENSP00000462187.1:n.58+960C>T
NM_022068.3:c.8056C>T NP_071351.2:p.Arg2686Cys
XM_011525723.1:c.8188C>T XP_011524025.1:p.Arg2730Cys
XM_011525724.1:c.8131C>T XP_011524026.1:p.Arg2711Cys
XM_011525725.1:c.8098C>T XP_011524027.1:p.Arg2700Cys
XM_011525726.1:c.8005C>T XP_011524028.1:p.Arg2669Cys
XM_011525723.3:c.8188C>T XP_011524025.1:p.Arg2730Cys
XM_011525724.3:c.8131C>T XP_011524026.1:p.Arg2711Cys
XM_011525725.3:c.8098C>T XP_011524027.1:p.Arg2700Cys
XM_011525726.3:c.8005C>T XP_011524028.1:p.Arg2669Cys
XM_017025918.2:c.8149C>T XP_016881407.1:p.Arg2717Cys
NM_001378183.1:c.8395C>T MANE Select NP_001365112.1:p.Arg2799Cys
NM_022068.4:c.8056C>T NP_071351.2:p.Arg2686Cys