Canonical Allele Identifier: CA2284440441
Community Standard Title: NM_001378183.1(PIEZO2):c.4798C= (p.Arg1600=)
Gene: PIEZO2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.10736621G= , CM000680.2:g.10736621G= GRCh38
NC_000018.9:g.10736619G= , CM000680.1:g.10736619G= GRCh37
NC_000018.8:g.10726619G= NCBI36
NG_034005.1:g.417142C=

Transcript Alleles

HGVS Amino-acid Change
NM_001378183.1:c.4798C= MANE Select NP_001365112.1:p.Arg1600=
ENST00000674853.1:c.4798C= MANE Select ENSP00000501957.1:p.Arg1600=
NM_022068.3:c.4723C= NP_071351.2:p.Arg1575=
NM_022068.4:c.4723C= NP_071351.2:p.Arg1575=
ENST00000302079.10:c.4723C= ENSP00000303316.6:p.Arg1575=
ENST00000383408.6:c.4576C= ENSP00000372900.3:p.Arg1526=
ENST00000383408.7:c.4798C= ENSP00000372900.4:p.Arg1600=
ENST00000503781.7:c.4723C= ENSP00000421377.3:p.Arg1575=
ENST00000580640.5:c.4798C= ENSP00000463094.1:p.Arg1600=
ENST00000582913.5:c.4764C= ENSP00000462115.1:n.4764C=
ENST00000686869.1:n.4855C=
XM_011525723.1:c.4855C= XP_011524025.1:p.Arg1619=
XM_011525723.3:c.4855C= XP_011524025.1:p.Arg1619=
XM_011525724.1:c.4798C= XP_011524026.1:p.Arg1600=
XM_011525724.3:c.4798C= XP_011524026.1:p.Arg1600=
XM_011525725.1:c.4765C= XP_011524027.1:p.Arg1589=
XM_011525725.3:c.4765C= XP_011524027.1:p.Arg1589=
XM_011525726.1:c.4855C= XP_011524028.1:p.Arg1619=
XM_011525726.3:c.4855C= XP_011524028.1:p.Arg1619=
XM_011525727.1:c.4855C= XP_011524029.1:p.Arg1619=
XM_017025918.2:c.4816C= XP_016881407.1:p.Arg1606=
XR_001753259.2:n.5852C=