Canonical Allele Identifier: CA401910286

Gene: PIEZO2

Linked Data

• dbSNP Id: rs2035533113
• gnomAD v3: 18-10705375-A-G
• gnomAD v4: 18-10705375-A-G
• MyVariant Identifiers: chr18:g.10705373A>G (hg19) ; chr18:g.10705375A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.10705375A>G , CM000680.2:g.10705375A>G	GRCh38
NC_000018.9:g.10705373A>G , CM000680.1:g.10705373A>G	GRCh37
NC_000018.8:g.10695373A>G	NCBI36
NG_034005.1:g.448388T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000383408.7:c.5696T>C	ENSP00000372900.4:p.Leu1899Pro
ENST00000643712.1:c.704T>C	ENSP00000493635.1:p.Leu235Pro
ENST00000674853.1:c.5960T>C MANE Select	ENSP00000501957.1:p.Leu1987Pro
ENST00000302079.10:c.5621T>C	ENSP00000303316.6:p.Leu1874Pro
ENST00000383408.6:c.5474T>C	ENSP00000372900.3:p.Leu1825Pro
ENST00000503781.7:c.5621T>C	ENSP00000421377.3:p.Leu1874Pro
ENST00000580640.5:c.5696T>C	ENSP00000463094.1:p.Leu1899Pro
ENST00000582913.5:c.5827T>C	ENSP00000462115.1:n.5827T>C
NM_022068.3:c.5621T>C	NP_071351.2:p.Leu1874Pro
XM_011525723.1:c.5753T>C	XP_011524025.1:p.Leu1918Pro
XM_011525724.1:c.5696T>C	XP_011524026.1:p.Leu1899Pro
XM_011525725.1:c.5663T>C	XP_011524027.1:p.Leu1888Pro
XM_011525726.1:c.5753T>C	XP_011524028.1:p.Leu1918Pro
XM_011525723.3:c.5753T>C	XP_011524025.1:p.Leu1918Pro
XM_011525724.3:c.5696T>C	XP_011524026.1:p.Leu1899Pro
XM_011525725.3:c.5663T>C	XP_011524027.1:p.Leu1888Pro
XM_011525726.3:c.5753T>C	XP_011524028.1:p.Leu1918Pro
XM_017025918.2:c.5714T>C	XP_016881407.1:p.Leu1905Pro
XR_001753259.2:n.6750T>C
NM_001378183.1:c.5960T>C MANE Select	NP_001365112.1:p.Leu1987Pro
NM_022068.4:c.5621T>C	NP_071351.2:p.Leu1874Pro