Canonical Allele Identifier: CA503243213

Gene: PIEZO2

Linked Data

• dbSNP Id: rs1205444077
• gnomAD v2: 18-10705399-C-T
• gnomAD v4: 18-10705401-C-T
• MyVariant Identifiers: chr18:g.10705399C>T (hg19) ; chr18:g.10705401C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.10705401C>T , CM000680.2:g.10705401C>T	GRCh38
NC_000018.9:g.10705399C>T , CM000680.1:g.10705399C>T	GRCh37
NC_000018.8:g.10695399C>T	NCBI36
NG_034005.1:g.448362G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383408.7:c.5670G>A	ENSP00000372900.4:p.Lys1890=
ENST00000643712.1:c.678G>A	ENSP00000493635.1:p.Lys226=
ENST00000674853.1:c.5934G>A MANE Select	ENSP00000501957.1:p.Lys1978=
ENST00000302079.10:c.5595G>A	ENSP00000303316.6:p.Lys1865=
ENST00000383408.6:c.5448G>A	ENSP00000372900.3:p.Lys1816=
ENST00000503781.7:c.5595G>A	ENSP00000421377.3:p.Lys1865=
ENST00000580640.5:c.5670G>A	ENSP00000463094.1:p.Lys1890=
ENST00000582913.5:c.5801G>A	ENSP00000462115.1:n.5801G>A
NM_022068.3:c.5595G>A	NP_071351.2:p.Lys1865=
XM_011525723.1:c.5727G>A	XP_011524025.1:p.Lys1909=
XM_011525724.1:c.5670G>A	XP_011524026.1:p.Lys1890=
XM_011525725.1:c.5637G>A	XP_011524027.1:p.Lys1879=
XM_011525726.1:c.5727G>A	XP_011524028.1:p.Lys1909=
XM_011525723.3:c.5727G>A	XP_011524025.1:p.Lys1909=
XM_011525724.3:c.5670G>A	XP_011524026.1:p.Lys1890=
XM_011525725.3:c.5637G>A	XP_011524027.1:p.Lys1879=
XM_011525726.3:c.5727G>A	XP_011524028.1:p.Lys1909=
XM_017025918.2:c.5688G>A	XP_016881407.1:p.Lys1896=
XR_001753259.2:n.6724G>A
NM_001378183.1:c.5934G>A MANE Select	NP_001365112.1:p.Lys1978=
NM_022068.4:c.5595G>A	NP_071351.2:p.Lys1865=