Canonical Allele Identifier: CA2284420973
Community Standard Title: NM_001378183.1(PIEZO2):c.7001C= (p.Thr2334=)
Gene: PIEZO2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.10696263G= , CM000680.2:g.10696263G= GRCh38
NC_000018.9:g.10696261G= , CM000680.1:g.10696261G= GRCh37
NC_000018.8:g.10686261G= NCBI36
NG_034005.1:g.457500C=

Transcript Alleles

HGVS Amino-acid Change
NM_001378183.1:c.7001C= MANE Select NP_001365112.1:p.Thr2334=
ENST00000674853.1:c.7001C= MANE Select ENSP00000501957.1:p.Thr2334=
NM_022068.3:c.6662C= NP_071351.2:p.Thr2221=
NM_022068.4:c.6662C= NP_071351.2:p.Thr2221=
ENST00000302079.10:c.6662C= ENSP00000303316.6:p.Thr2221=
ENST00000383408.6:c.6515C= ENSP00000372900.3:p.Thr2172=
ENST00000383408.7:c.*103C= ENSP00000372900.4:n.*103C=
ENST00000503781.7:c.6662C= ENSP00000421377.3:p.Thr2221=
ENST00000538948.5:c.533C= ENSP00000443129.1:p.Thr178=
ENST00000580640.5:c.6737C= ENSP00000463094.1:p.Thr2246=
ENST00000582913.5:c.6868C= ENSP00000462115.1:n.6868C=
ENST00000685517.1:n.1740C=
XM_011525723.1:c.6794C= XP_011524025.1:p.Thr2265=
XM_011525723.3:c.6794C= XP_011524025.1:p.Thr2265=
XM_011525724.1:c.6737C= XP_011524026.1:p.Thr2246=
XM_011525724.3:c.6737C= XP_011524026.1:p.Thr2246=
XM_011525725.1:c.6704C= XP_011524027.1:p.Thr2235=
XM_011525725.3:c.6704C= XP_011524027.1:p.Thr2235=
XM_011525726.1:c.6611C= XP_011524028.1:p.Thr2204=
XM_011525726.3:c.6611C= XP_011524028.1:p.Thr2204=
XM_017025918.2:c.6755C= XP_016881407.1:p.Thr2252=
XR_001753259.2:n.7791C=