Canonical Allele Identifier: CA401910320

Gene: PIEZO2

Linked Data

• gnomAD v4: 18-10705390-C-T
• MyVariant Identifiers: chr18:g.10705388C>T (hg19) ; chr18:g.10705390C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.10705390C>T , CM000680.2:g.10705390C>T	GRCh38
NC_000018.9:g.10705388C>T , CM000680.1:g.10705388C>T	GRCh37
NC_000018.8:g.10695388C>T	NCBI36
NG_034005.1:g.448373G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383408.7:c.5681G>A	ENSP00000372900.4:p.Ser1894Asn
ENST00000643712.1:c.689G>A	ENSP00000493635.1:p.Ser230Asn
ENST00000674853.1:c.5945G>A MANE Select	ENSP00000501957.1:p.Ser1982Asn
ENST00000302079.10:c.5606G>A	ENSP00000303316.6:p.Ser1869Asn
ENST00000383408.6:c.5459G>A	ENSP00000372900.3:p.Ser1820Asn
ENST00000503781.7:c.5606G>A	ENSP00000421377.3:p.Ser1869Asn
ENST00000580640.5:c.5681G>A	ENSP00000463094.1:p.Ser1894Asn
ENST00000582913.5:c.5812G>A	ENSP00000462115.1:n.5812G>A
NM_022068.3:c.5606G>A	NP_071351.2:p.Ser1869Asn
XM_011525723.1:c.5738G>A	XP_011524025.1:p.Ser1913Asn
XM_011525724.1:c.5681G>A	XP_011524026.1:p.Ser1894Asn
XM_011525725.1:c.5648G>A	XP_011524027.1:p.Ser1883Asn
XM_011525726.1:c.5738G>A	XP_011524028.1:p.Ser1913Asn
XM_011525723.3:c.5738G>A	XP_011524025.1:p.Ser1913Asn
XM_011525724.3:c.5681G>A	XP_011524026.1:p.Ser1894Asn
XM_011525725.3:c.5648G>A	XP_011524027.1:p.Ser1883Asn
XM_011525726.3:c.5738G>A	XP_011524028.1:p.Ser1913Asn
XM_017025918.2:c.5699G>A	XP_016881407.1:p.Ser1900Asn
XR_001753259.2:n.6735G>A
NM_001378183.1:c.5945G>A MANE Select	NP_001365112.1:p.Ser1982Asn
NM_022068.4:c.5606G>A	NP_071351.2:p.Ser1869Asn