Canonical Allele Identifier: CA401910313

Gene: PIEZO2

Linked Data

• dbSNP Id: rs1383122232
• gnomAD v2: 18-10705386-T-A
• MyVariant Identifiers: chr18:g.10705386T>A (hg19) ; chr18:g.10705388T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.10705388T>A , CM000680.2:g.10705388T>A	GRCh38
NC_000018.9:g.10705386T>A , CM000680.1:g.10705386T>A	GRCh37
NC_000018.8:g.10695386T>A	NCBI36
NG_034005.1:g.448375A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000383408.7:c.5683A>T	ENSP00000372900.4:p.Ile1895Phe
ENST00000643712.1:c.691A>T	ENSP00000493635.1:p.Ile231Phe
ENST00000674853.1:c.5947A>T MANE Select	ENSP00000501957.1:p.Ile1983Phe
ENST00000302079.10:c.5608A>T	ENSP00000303316.6:p.Ile1870Phe
ENST00000383408.6:c.5461A>T	ENSP00000372900.3:p.Ile1821Phe
ENST00000503781.7:c.5608A>T	ENSP00000421377.3:p.Ile1870Phe
ENST00000580640.5:c.5683A>T	ENSP00000463094.1:p.Ile1895Phe
ENST00000582913.5:c.5814A>T	ENSP00000462115.1:n.5814A>T
NM_022068.3:c.5608A>T	NP_071351.2:p.Ile1870Phe
XM_011525723.1:c.5740A>T	XP_011524025.1:p.Ile1914Phe
XM_011525724.1:c.5683A>T	XP_011524026.1:p.Ile1895Phe
XM_011525725.1:c.5650A>T	XP_011524027.1:p.Ile1884Phe
XM_011525726.1:c.5740A>T	XP_011524028.1:p.Ile1914Phe
XM_011525723.3:c.5740A>T	XP_011524025.1:p.Ile1914Phe
XM_011525724.3:c.5683A>T	XP_011524026.1:p.Ile1895Phe
XM_011525725.3:c.5650A>T	XP_011524027.1:p.Ile1884Phe
XM_011525726.3:c.5740A>T	XP_011524028.1:p.Ile1914Phe
XM_017025918.2:c.5701A>T	XP_016881407.1:p.Ile1901Phe
XR_001753259.2:n.6737A>T
NM_001378183.1:c.5947A>T MANE Select	NP_001365112.1:p.Ile1983Phe
NM_022068.4:c.5608A>T	NP_071351.2:p.Ile1870Phe