Canonical Allele Identifier: CA163195
Gene: PIEZO2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.10671542_10671549del , CM000680.2:g.10671542_10671549del GRCh38
NC_000018.9:g.10671539_10671546del , CM000680.1:g.10671539_10671546del GRCh37
NC_000018.8:g.10661539_10661546del NCBI36
NG_034005.1:g.482215_482222del

Transcript Alleles

HGVS Amino-acid Change
ENST00000383408.7:c.*1679_*1686del ENSP00000372900.4:n.*1679_*1686del
ENST00000685517.1:n.3320_3327del
ENST00000691469.1:n.2475_2482del
ENST00000693743.1:c.1773_1780del ENSP00000510331.1:n.1773_1780del
ENST00000674853.1:c.8577_8584del MANE Select ENSP00000501957.1:p.Trp2859Ter
ENST00000302079.10:c.8049_8056del ENSP00000303316.6:p.Trp2683Ter
ENST00000383408.6:c.8091_8098del ENSP00000372900.3:p.Trp2697Ter
ENST00000503781.7:c.8238_8245del ENSP00000421377.3:p.Trp2746Ter
ENST00000538948.5:c.2109_2116del ENSP00000443129.1:p.Trp703Ter
ENST00000580640.5:c.8313_8320del ENSP00000463094.1:p.Trp2771Ter
ENST00000582913.5:c.8444_8451del ENSP00000462115.1:n.8444_8451del
ENST00000582937.1:c.58+1142_58+1149del ENSP00000462187.1:n.58+1142_58+1149del
NM_022068.3:c.8238_8245del NP_071351.2:p.Trp2746Ter
XM_011525723.1:c.8370_8377del XP_011524025.1:p.Trp2790Ter
XM_011525724.1:c.8313_8320del XP_011524026.1:p.Trp2771Ter
XM_011525725.1:c.8280_8287del XP_011524027.1:p.Trp2760Ter
XM_011525726.1:c.8187_8194del XP_011524028.1:p.Trp2729Ter
XM_011525723.3:c.8370_8377del XP_011524025.1:p.Trp2790Ter
XM_011525724.3:c.8313_8320del XP_011524026.1:p.Trp2771Ter
XM_011525725.3:c.8280_8287del XP_011524027.1:p.Trp2760Ter
XM_011525726.3:c.8187_8194del XP_011524028.1:p.Trp2729Ter
XM_017025918.2:c.8331_8338del XP_016881407.1:p.Trp2777Ter
NM_001378183.1:c.8577_8584del MANE Select NP_001365112.1:p.Trp2859Ter
NM_022068.4:c.8238_8245del NP_071351.2:p.Trp2746Ter