Canonical Allele Identifier: CA8892092

Gene: PIEZO2

Linked Data

• ClinVar Variation Id: 261525
• ClinVar RCV Id: RCV000241549 ; RCV001636816 ; RCV001788167 ; RCV001788168 ; RCV001788169 ; RCV001788170
• dbSNP Id: rs2277860
• ExAC: 18:10696227 C / T
• gnomAD v2: 18-10696227-C-T
• gnomAD v3: 18-10696229-C-T
• gnomAD v4: 18-10696229-C-T
• MyVariant Identifiers: chr18:g.10696227C>T (hg19) ; chr18:g.10696229C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.10696229C>T , CM000680.2:g.10696229C>T	GRCh38
NC_000018.9:g.10696227C>T , CM000680.1:g.10696227C>T	GRCh37
NC_000018.8:g.10686227C>T	NCBI36
NG_034005.1:g.457534G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383408.7:c.*137G>A	ENSP00000372900.4:n.*137G>A
ENST00000685517.1:n.1774G>A
ENST00000693743.1:c.6G>A	ENSP00000510331.1:p.Pro2=
ENST00000674853.1:c.7035G>A MANE Select	ENSP00000501957.1:p.Pro2345=
ENST00000302079.10:c.6696G>A	ENSP00000303316.6:p.Pro2232=
ENST00000383408.6:c.6549G>A	ENSP00000372900.3:p.Pro2183=
ENST00000503781.7:c.6696G>A	ENSP00000421377.3:p.Pro2232=
ENST00000538948.5:c.567G>A	ENSP00000443129.1:p.Pro189=
ENST00000580640.5:c.6771G>A	ENSP00000463094.1:p.Pro2257=
ENST00000582913.5:c.6902G>A	ENSP00000462115.1:n.6902G>A
NM_022068.3:c.6696G>A	NP_071351.2:p.Pro2232=
XM_011525723.1:c.6828G>A	XP_011524025.1:p.Pro2276=
XM_011525724.1:c.6771G>A	XP_011524026.1:p.Pro2257=
XM_011525725.1:c.6738G>A	XP_011524027.1:p.Pro2246=
XM_011525726.1:c.6645G>A	XP_011524028.1:p.Pro2215=
XM_011525723.3:c.6828G>A	XP_011524025.1:p.Pro2276=
XM_011525724.3:c.6771G>A	XP_011524026.1:p.Pro2257=
XM_011525725.3:c.6738G>A	XP_011524027.1:p.Pro2246=
XM_011525726.3:c.6645G>A	XP_011524028.1:p.Pro2215=
XM_017025918.2:c.6789G>A	XP_016881407.1:p.Pro2263=
XR_001753259.2:n.7825G>A
NM_001378183.1:c.7035G>A MANE Select	NP_001365112.1:p.Pro2345=
NM_022068.4:c.6696G>A	NP_071351.2:p.Pro2232=