Canonical Allele Identifier: CA2284417856
Community Standard Title: NM_001378183.1(PIEZO2):c.7406C= (p.Thr2469=)
Gene: PIEZO2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.10689746G= , CM000680.2:g.10689746G= GRCh38
NC_000018.9:g.10689744G= , CM000680.1:g.10689744G= GRCh37
NC_000018.8:g.10679744G= NCBI36
NG_034005.1:g.464017C=

Transcript Alleles

HGVS Amino-acid Change
NM_001378183.1:c.7406C= MANE Select NP_001365112.1:p.Thr2469=
ENST00000674853.1:c.7406C= MANE Select ENSP00000501957.1:p.Thr2469=
NM_022068.3:c.7067C= NP_071351.2:p.Thr2356=
NM_022068.4:c.7067C= NP_071351.2:p.Thr2356=
ENST00000302079.10:c.7067C= ENSP00000303316.6:p.Thr2356=
ENST00000383408.6:c.6920C= ENSP00000372900.3:p.Thr2307=
ENST00000383408.7:c.*508C= ENSP00000372900.4:n.*508C=
ENST00000503781.7:c.7067C= ENSP00000421377.3:p.Thr2356=
ENST00000538948.5:c.938C= ENSP00000443129.1:p.Thr313=
ENST00000580640.5:c.7142C= ENSP00000463094.1:p.Thr2381=
ENST00000582913.5:c.7273C= ENSP00000462115.1:n.7273C=
ENST00000685517.1:n.2145C=
ENST00000693743.1:c.602C= ENSP00000510331.1:n.602C=
XM_011525723.1:c.7199C= XP_011524025.1:p.Thr2400=
XM_011525723.3:c.7199C= XP_011524025.1:p.Thr2400=
XM_011525724.1:c.7142C= XP_011524026.1:p.Thr2381=
XM_011525724.3:c.7142C= XP_011524026.1:p.Thr2381=
XM_011525725.1:c.7109C= XP_011524027.1:p.Thr2370=
XM_011525725.3:c.7109C= XP_011524027.1:p.Thr2370=
XM_011525726.1:c.7016C= XP_011524028.1:p.Thr2339=
XM_011525726.3:c.7016C= XP_011524028.1:p.Thr2339=
XM_017025918.2:c.7160C= XP_016881407.1:p.Thr2387=
XR_001753259.2:n.8196C=