Canonical Allele Identifier: CA8892293

Gene: PIEZO2

Linked Data

• ClinVar Variation Id: 2963283
• ClinVar RCV Id: RCV003822937
• dbSNP Id: rs759333914
• ExAC: 18:10705405 G / A
• gnomAD v2: 18-10705405-G-A
• gnomAD v3: 18-10705407-G-A
• gnomAD v4: 18-10705407-G-A
• MyVariant Identifiers: chr18:g.10705405G>A (hg19) ; chr18:g.10705407G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.10705407G>A , CM000680.2:g.10705407G>A	GRCh38
NC_000018.9:g.10705405G>A , CM000680.1:g.10705405G>A	GRCh37
NC_000018.8:g.10695405G>A	NCBI36
NG_034005.1:g.448356C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383408.7:c.5664C>T	ENSP00000372900.4:p.Thr1888=
ENST00000643712.1:c.672C>T	ENSP00000493635.1:p.Thr224=
ENST00000674853.1:c.5928C>T MANE Select	ENSP00000501957.1:p.Thr1976=
ENST00000302079.10:c.5589C>T	ENSP00000303316.6:p.Thr1863=
ENST00000383408.6:c.5442C>T	ENSP00000372900.3:p.Thr1814=
ENST00000503781.7:c.5589C>T	ENSP00000421377.3:p.Thr1863=
ENST00000580640.5:c.5664C>T	ENSP00000463094.1:p.Thr1888=
ENST00000582913.5:c.5795C>T	ENSP00000462115.1:n.5795C>T
NM_022068.3:c.5589C>T	NP_071351.2:p.Thr1863=
XM_011525723.1:c.5721C>T	XP_011524025.1:p.Thr1907=
XM_011525724.1:c.5664C>T	XP_011524026.1:p.Thr1888=
XM_011525725.1:c.5631C>T	XP_011524027.1:p.Thr1877=
XM_011525726.1:c.5721C>T	XP_011524028.1:p.Thr1907=
XM_011525723.3:c.5721C>T	XP_011524025.1:p.Thr1907=
XM_011525724.3:c.5664C>T	XP_011524026.1:p.Thr1888=
XM_011525725.3:c.5631C>T	XP_011524027.1:p.Thr1877=
XM_011525726.3:c.5721C>T	XP_011524028.1:p.Thr1907=
XM_017025918.2:c.5682C>T	XP_016881407.1:p.Thr1894=
XR_001753259.2:n.6718C>T
NM_001378183.1:c.5928C>T MANE Select	NP_001365112.1:p.Thr1976=
NM_022068.4:c.5589C>T	NP_071351.2:p.Thr1863=