Canonical Allele Identifier: CA8892020

Gene: PIEZO2

Linked Data

• ClinVar Variation Id: 261527
• ClinVar RCV Id: RCV000251486 ; RCV001788176 ; RCV001788177 ; RCV001788178 ; RCV002058317 ; RCV001788175
• dbSNP Id: rs3748422
• ExAC: 18:10691216 G / A
• gnomAD v2: 18-10691216-G-A
• gnomAD v3: 18-10691218-G-A
• gnomAD v4: 18-10691218-G-A
• MyVariant Identifiers: chr18:g.10691216G>A (hg19) ; chr18:g.10691218G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.10691218G>A , CM000680.2:g.10691218G>A	GRCh38
NC_000018.9:g.10691216G>A , CM000680.1:g.10691216G>A	GRCh37
NC_000018.8:g.10681216G>A	NCBI36
NG_034005.1:g.462545C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383408.7:c.*451+7C>T	ENSP00000372900.4:n.*451+7C>T
ENST00000685517.1:n.2088+7C>T
ENST00000693743.1:c.327C>T	ENSP00000510331.1:n.327C>T
ENST00000674853.1:c.7349+7C>T MANE Select	ENSP00000501957.1:n.7349+7C>T
ENST00000302079.10:c.7010+7C>T	ENSP00000303316.6:n.7010+7C>T
ENST00000383408.6:c.6863+7C>T	ENSP00000372900.3:n.6863+7C>T
ENST00000503781.7:c.7010+7C>T	ENSP00000421377.3:n.7010+7C>T
ENST00000538948.5:c.881+7C>T	ENSP00000443129.1:n.881+7C>T
ENST00000580640.5:c.7085+7C>T	ENSP00000463094.1:n.7085+7C>T
ENST00000582913.5:c.7216+7C>T	ENSP00000462115.1:n.7216+7C>T
NM_022068.3:c.7010+7C>T	NP_071351.2:n.7010+7C>T
XM_011525723.1:c.7142+7C>T	XP_011524025.1:n.7142+7C>T
XM_011525724.1:c.7085+7C>T	XP_011524026.1:n.7085+7C>T
XM_011525725.1:c.7052+7C>T	XP_011524027.1:n.7052+7C>T
XM_011525726.1:c.6959+7C>T	XP_011524028.1:n.6959+7C>T
XM_011525723.3:c.7142+7C>T	XP_011524025.1:n.7142+7C>T
XM_011525724.3:c.7085+7C>T	XP_011524026.1:n.7085+7C>T
XM_011525725.3:c.7052+7C>T	XP_011524027.1:n.7052+7C>T
XM_011525726.3:c.6959+7C>T	XP_011524028.1:n.6959+7C>T
XM_017025918.2:c.7103+7C>T	XP_016881407.1:n.7103+7C>T
XR_001753259.2:n.8139+7C>T
NM_001378183.1:c.7349+7C>T MANE Select	NP_001365112.1:n.7349+7C>T
NM_022068.4:c.7010+7C>T	NP_071351.2:n.7010+7C>T