Canonical Allele Identifier: CA401910323

Gene: PIEZO2

Linked Data

• gnomAD v4: 18-10705391-T-G
• MyVariant Identifiers: chr18:g.10705389T>G (hg19) ; chr18:g.10705391T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.10705391T>G , CM000680.2:g.10705391T>G	GRCh38
NC_000018.9:g.10705389T>G , CM000680.1:g.10705389T>G	GRCh37
NC_000018.8:g.10695389T>G	NCBI36
NG_034005.1:g.448372A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383408.7:c.5680A>C	ENSP00000372900.4:p.Ser1894Arg
ENST00000643712.1:c.688A>C	ENSP00000493635.1:p.Ser230Arg
ENST00000674853.1:c.5944A>C MANE Select	ENSP00000501957.1:p.Ser1982Arg
ENST00000302079.10:c.5605A>C	ENSP00000303316.6:p.Ser1869Arg
ENST00000383408.6:c.5458A>C	ENSP00000372900.3:p.Ser1820Arg
ENST00000503781.7:c.5605A>C	ENSP00000421377.3:p.Ser1869Arg
ENST00000580640.5:c.5680A>C	ENSP00000463094.1:p.Ser1894Arg
ENST00000582913.5:c.5811A>C	ENSP00000462115.1:n.5811A>C
NM_022068.3:c.5605A>C	NP_071351.2:p.Ser1869Arg
XM_011525723.1:c.5737A>C	XP_011524025.1:p.Ser1913Arg
XM_011525724.1:c.5680A>C	XP_011524026.1:p.Ser1894Arg
XM_011525725.1:c.5647A>C	XP_011524027.1:p.Ser1883Arg
XM_011525726.1:c.5737A>C	XP_011524028.1:p.Ser1913Arg
XM_011525723.3:c.5737A>C	XP_011524025.1:p.Ser1913Arg
XM_011525724.3:c.5680A>C	XP_011524026.1:p.Ser1894Arg
XM_011525725.3:c.5647A>C	XP_011524027.1:p.Ser1883Arg
XM_011525726.3:c.5737A>C	XP_011524028.1:p.Ser1913Arg
XM_017025918.2:c.5698A>C	XP_016881407.1:p.Ser1900Arg
XR_001753259.2:n.6734A>C
NM_001378183.1:c.5944A>C MANE Select	NP_001365112.1:p.Ser1982Arg
NM_022068.4:c.5605A>C	NP_071351.2:p.Ser1869Arg