Canonical Allele Identifier: CA401910302

Gene: PIEZO2

Linked Data

• dbSNP Id: rs1000058744
• gnomAD v2: 18-10705381-T-A
• gnomAD v4: 18-10705383-T-A
• MyVariant Identifiers: chr18:g.10705381T>A (hg19) ; chr18:g.10705383T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.10705383T>A , CM000680.2:g.10705383T>A	GRCh38
NC_000018.9:g.10705381T>A , CM000680.1:g.10705381T>A	GRCh37
NC_000018.8:g.10695381T>A	NCBI36
NG_034005.1:g.448380A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000383408.7:c.5688A>T	ENSP00000372900.4:p.Leu1896Phe
ENST00000643712.1:c.696A>T	ENSP00000493635.1:p.Leu232Phe
ENST00000674853.1:c.5952A>T MANE Select	ENSP00000501957.1:p.Leu1984Phe
ENST00000302079.10:c.5613A>T	ENSP00000303316.6:p.Leu1871Phe
ENST00000383408.6:c.5466A>T	ENSP00000372900.3:p.Leu1822Phe
ENST00000503781.7:c.5613A>T	ENSP00000421377.3:p.Leu1871Phe
ENST00000580640.5:c.5688A>T	ENSP00000463094.1:p.Leu1896Phe
ENST00000582913.5:c.5819A>T	ENSP00000462115.1:n.5819A>T
NM_022068.3:c.5613A>T	NP_071351.2:p.Leu1871Phe
XM_011525723.1:c.5745A>T	XP_011524025.1:p.Leu1915Phe
XM_011525724.1:c.5688A>T	XP_011524026.1:p.Leu1896Phe
XM_011525725.1:c.5655A>T	XP_011524027.1:p.Leu1885Phe
XM_011525726.1:c.5745A>T	XP_011524028.1:p.Leu1915Phe
XM_011525723.3:c.5745A>T	XP_011524025.1:p.Leu1915Phe
XM_011525724.3:c.5688A>T	XP_011524026.1:p.Leu1896Phe
XM_011525725.3:c.5655A>T	XP_011524027.1:p.Leu1885Phe
XM_011525726.3:c.5745A>T	XP_011524028.1:p.Leu1915Phe
XM_017025918.2:c.5706A>T	XP_016881407.1:p.Leu1902Phe
XR_001753259.2:n.6742A>T
NM_001378183.1:c.5952A>T MANE Select	NP_001365112.1:p.Leu1984Phe
NM_022068.4:c.5613A>T	NP_071351.2:p.Leu1871Phe