Canonical Allele Identifier: CA401918435

Gene: PIEZO2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.10748528C>T , CM000680.2:g.10748528C>T	GRCh38
NC_000018.9:g.10748526C>T , CM000680.1:g.10748526C>T	GRCh37
NC_000018.8:g.10738526C>T	NCBI36
NG_034005.1:g.405235G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001378183.1:c.4367G>A MANE Select	NP_001365112.1:p.Ser1456Asn
ENST00000674853.1:c.4367G>A MANE Select	ENSP00000501957.1:p.Ser1456Asn
NM_022068.3:c.4292G>A	NP_071351.2:p.Ser1431Asn
NM_022068.4:c.4292G>A	NP_071351.2:p.Ser1431Asn
ENST00000302079.10:c.4292G>A	ENSP00000303316.6:p.Ser1431Asn
ENST00000383408.6:c.4145G>A	ENSP00000372900.3:p.Ser1382Asn
ENST00000383408.7:c.4367G>A	ENSP00000372900.4:p.Ser1456Asn
ENST00000503781.7:c.4292G>A	ENSP00000421377.3:p.Ser1431Asn
ENST00000580640.5:c.4367G>A	ENSP00000463094.1:p.Ser1456Asn
ENST00000582913.5:c.4334G>A	ENSP00000462115.1:p.Ser1445Asn
ENST00000686869.1:n.4424G>A
XM_011525723.1:c.4424G>A	XP_011524025.1:p.Ser1475Asn
XM_011525723.3:c.4424G>A	XP_011524025.1:p.Ser1475Asn
XM_011525724.1:c.4367G>A	XP_011524026.1:p.Ser1456Asn
XM_011525724.3:c.4367G>A	XP_011524026.1:p.Ser1456Asn
XM_011525725.1:c.4334G>A	XP_011524027.1:p.Ser1445Asn
XM_011525725.3:c.4334G>A	XP_011524027.1:p.Ser1445Asn
XM_011525726.1:c.4424G>A	XP_011524028.1:p.Ser1475Asn
XM_011525726.3:c.4424G>A	XP_011524028.1:p.Ser1475Asn
XM_011525727.1:c.4424G>A	XP_011524029.1:p.Ser1475Asn
XM_017025918.2:c.4385G>A	XP_016881407.1:p.Ser1462Asn
XR_001753259.2:n.5421G>A