Canonical Allele Identifier: CA401922335

Gene: PIEZO2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.10759798C>A , CM000680.2:g.10759798C>A	GRCh38
NC_000018.9:g.10759796C>A , CM000680.1:g.10759796C>A	GRCh37
NC_000018.8:g.10749796C>A	NCBI36
NG_034005.1:g.393965G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378183.1:c.3562G>T MANE Select	NP_001365112.1:p.Ala1188Ser
ENST00000674853.1:c.3562G>T MANE Select	ENSP00000501957.1:p.Ala1188Ser
NM_022068.3:c.3487G>T	NP_071351.2:p.Ala1163Ser
NM_022068.4:c.3487G>T	NP_071351.2:p.Ala1163Ser
ENST00000302079.10:c.3487G>T	ENSP00000303316.6:p.Ala1163Ser
ENST00000383408.6:c.3340G>T	ENSP00000372900.3:p.Ala1114Ser
ENST00000383408.7:c.3562G>T	ENSP00000372900.4:p.Ala1188Ser
ENST00000503781.7:c.3487G>T	ENSP00000421377.3:p.Ala1163Ser
ENST00000580640.5:c.3562G>T	ENSP00000463094.1:p.Ala1188Ser
ENST00000582913.5:c.3529G>T	ENSP00000462115.1:p.Ala1177Ser
ENST00000686869.1:n.3619G>T
XM_011525723.1:c.3619G>T	XP_011524025.1:p.Ala1207Ser
XM_011525723.3:c.3619G>T	XP_011524025.1:p.Ala1207Ser
XM_011525724.1:c.3562G>T	XP_011524026.1:p.Ala1188Ser
XM_011525724.3:c.3562G>T	XP_011524026.1:p.Ala1188Ser
XM_011525725.1:c.3529G>T	XP_011524027.1:p.Ala1177Ser
XM_011525725.3:c.3529G>T	XP_011524027.1:p.Ala1177Ser
XM_011525726.1:c.3619G>T	XP_011524028.1:p.Ala1207Ser
XM_011525726.3:c.3619G>T	XP_011524028.1:p.Ala1207Ser
XM_011525727.1:c.3619G>T	XP_011524029.1:p.Ala1207Ser
XM_017025918.2:c.3580G>T	XP_016881407.1:p.Ala1194Ser
XR_001753259.2:n.4616G>T