Canonical Allele Identifier: CA401920382

Gene: PIEZO2

Linked Data

• ClinVar Variation Id: 2270729
• ClinVar RCV Id: RCV002812437
• gnomAD v4: 18-10784878-C-A
• MyVariant Identifiers: chr18:g.10784876C>A (hg19) ; chr18:g.10784878C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.10784878C>A , CM000680.2:g.10784878C>A	GRCh38
NC_000018.9:g.10784876C>A , CM000680.1:g.10784876C>A	GRCh37
NC_000018.8:g.10774876C>A	NCBI36
NG_034005.1:g.368885G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383408.7:c.2398G>T	ENSP00000372900.4:p.Val800Leu
ENST00000686869.1:n.2455G>T
ENST00000674853.1:c.2398G>T MANE Select	ENSP00000501957.1:p.Val800Leu
ENST00000302079.10:c.2398G>T	ENSP00000303316.6:p.Val800Leu
ENST00000383408.6:c.2245G>T	ENSP00000372900.3:p.Val749Leu
ENST00000503781.7:c.2398G>T	ENSP00000421377.3:p.Val800Leu
ENST00000580640.5:c.2398G>T	ENSP00000463094.1:p.Val800Leu
ENST00000582913.5:c.2398G>T	ENSP00000462115.1:p.Val800Leu
ENST00000583325.1:c.385G>T	ENSP00000462560.1:p.Val129Leu
NM_022068.3:c.2398G>T	NP_071351.2:p.Val800Leu
XM_011525723.1:c.2398G>T	XP_011524025.1:p.Val800Leu
XM_011525724.1:c.2398G>T	XP_011524026.1:p.Val800Leu
XM_011525725.1:c.2398G>T	XP_011524027.1:p.Val800Leu
XM_011525726.1:c.2398G>T	XP_011524028.1:p.Val800Leu
XM_011525727.1:c.2398G>T	XP_011524029.1:p.Val800Leu
XM_011525723.3:c.2398G>T	XP_011524025.1:p.Val800Leu
XM_011525724.3:c.2398G>T	XP_011524026.1:p.Val800Leu
XM_011525725.3:c.2398G>T	XP_011524027.1:p.Val800Leu
XM_011525726.3:c.2398G>T	XP_011524028.1:p.Val800Leu
XM_017025918.2:c.2359G>T	XP_016881407.1:p.Val787Leu
XR_001753259.2:n.3395G>T
NM_001378183.1:c.2398G>T MANE Select	NP_001365112.1:p.Val800Leu
NM_022068.4:c.2398G>T	NP_071351.2:p.Val800Leu