Canonical Allele Identifier: CA3229057865
Community Standard Title: NM_001378183.1(PIEZO2):c.8547A= (p.Leu2849=)
Gene: PIEZO2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.10671578T= , CM000680.2:g.10671578T= GRCh38
NC_000018.9:g.10671575T= , CM000680.1:g.10671575T= GRCh37
NC_000018.8:g.10661575T= NCBI36
NG_034005.1:g.482185A=

Transcript Alleles

HGVS Amino-acid Change
NM_001378183.1:c.8547A= MANE Select NP_001365112.1:p.Leu2849=
ENST00000674853.1:c.8547A= MANE Select ENSP00000501957.1:p.Leu2849=
NM_022068.3:c.8208A= NP_071351.2:p.Leu2736=
NM_022068.4:c.8208A= NP_071351.2:p.Leu2736=
ENST00000302079.10:c.8019A= ENSP00000303316.6:p.Leu2673=
ENST00000383408.6:c.8061A= ENSP00000372900.3:p.Leu2687=
ENST00000383408.7:c.*1649A= ENSP00000372900.4:n.*1649A=
ENST00000503781.7:c.8208A= ENSP00000421377.3:p.Leu2736=
ENST00000538948.5:c.2079A= ENSP00000443129.1:p.Leu693=
ENST00000580640.5:c.8283A= ENSP00000463094.1:p.Leu2761=
ENST00000582913.5:c.8414A= ENSP00000462115.1:n.8414A=
ENST00000582937.1:c.58+1112A= ENSP00000462187.1:n.58+1112A=
ENST00000685517.1:n.3290A=
ENST00000691469.1:n.2445A=
ENST00000693743.1:c.1743A= ENSP00000510331.1:n.1743A=
XM_011525723.1:c.8340A= XP_011524025.1:p.Leu2780=
XM_011525723.3:c.8340A= XP_011524025.1:p.Leu2780=
XM_011525724.1:c.8283A= XP_011524026.1:p.Leu2761=
XM_011525724.3:c.8283A= XP_011524026.1:p.Leu2761=
XM_011525725.1:c.8250A= XP_011524027.1:p.Leu2750=
XM_011525725.3:c.8250A= XP_011524027.1:p.Leu2750=
XM_011525726.1:c.8157A= XP_011524028.1:p.Leu2719=
XM_011525726.3:c.8157A= XP_011524028.1:p.Leu2719=
XM_017025918.2:c.8301A= XP_016881407.1:p.Leu2767=