Canonical Allele Identifier: CA401910312

Gene: PIEZO2

Linked Data

• gnomAD v4: 18-10705387-A-G
• MyVariant Identifiers: chr18:g.10705385A>G (hg19) ; chr18:g.10705387A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.10705387A>G , CM000680.2:g.10705387A>G	GRCh38
NC_000018.9:g.10705385A>G , CM000680.1:g.10705385A>G	GRCh37
NC_000018.8:g.10695385A>G	NCBI36
NG_034005.1:g.448376T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000383408.7:c.5684T>C	ENSP00000372900.4:p.Ile1895Thr
ENST00000643712.1:c.692T>C	ENSP00000493635.1:p.Ile231Thr
ENST00000674853.1:c.5948T>C MANE Select	ENSP00000501957.1:p.Ile1983Thr
ENST00000302079.10:c.5609T>C	ENSP00000303316.6:p.Ile1870Thr
ENST00000383408.6:c.5462T>C	ENSP00000372900.3:p.Ile1821Thr
ENST00000503781.7:c.5609T>C	ENSP00000421377.3:p.Ile1870Thr
ENST00000580640.5:c.5684T>C	ENSP00000463094.1:p.Ile1895Thr
ENST00000582913.5:c.5815T>C	ENSP00000462115.1:n.5815T>C
NM_022068.3:c.5609T>C	NP_071351.2:p.Ile1870Thr
XM_011525723.1:c.5741T>C	XP_011524025.1:p.Ile1914Thr
XM_011525724.1:c.5684T>C	XP_011524026.1:p.Ile1895Thr
XM_011525725.1:c.5651T>C	XP_011524027.1:p.Ile1884Thr
XM_011525726.1:c.5741T>C	XP_011524028.1:p.Ile1914Thr
XM_011525723.3:c.5741T>C	XP_011524025.1:p.Ile1914Thr
XM_011525724.3:c.5684T>C	XP_011524026.1:p.Ile1895Thr
XM_011525725.3:c.5651T>C	XP_011524027.1:p.Ile1884Thr
XM_011525726.3:c.5741T>C	XP_011524028.1:p.Ile1914Thr
XM_017025918.2:c.5702T>C	XP_016881407.1:p.Ile1901Thr
XR_001753259.2:n.6738T>C
NM_001378183.1:c.5948T>C MANE Select	NP_001365112.1:p.Ile1983Thr
NM_022068.4:c.5609T>C	NP_071351.2:p.Ile1870Thr