Canonical Allele Identifier: CA163197

Gene: PIEZO2

Linked Data

• ClinVar Variation Id: 137631
• ClinVar RCV Id: RCV000125480
• dbSNP Id: rs587777452
• MyVariant Identifiers: chr18:g.10671630C>A (hg19) ; chr18:g.10671633C>A (hg38)
• PubMed: PMID:8533802 ; PMID:24726473

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.10671633C>A , CM000680.2:g.10671633C>A	GRCh38
NC_000018.9:g.10671630C>A , CM000680.1:g.10671630C>A	GRCh37
NC_000018.8:g.10661630C>A	NCBI36
NG_034005.1:g.482130G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383408.7:c.*1594G>T	ENSP00000372900.4:n.*1594G>T
ENST00000685517.1:n.3235G>T
ENST00000691469.1:n.2390G>T
ENST00000693743.1:c.1688G>T	ENSP00000510331.1:n.1688G>T
ENST00000674853.1:c.8492G>T MANE Select	ENSP00000501957.1:p.Arg2831Leu
ENST00000302079.10:c.7964G>T	ENSP00000303316.6:p.Arg2655Leu
ENST00000383408.6:c.8006G>T	ENSP00000372900.3:p.Arg2669Leu
ENST00000503781.7:c.8153G>T	ENSP00000421377.3:p.Arg2718Leu
ENST00000538948.5:c.2024G>T	ENSP00000443129.1:p.Arg675Leu
ENST00000580640.5:c.8228G>T	ENSP00000463094.1:p.Arg2743Leu
ENST00000582913.5:c.8359G>T	ENSP00000462115.1:n.8359G>T
ENST00000582937.1:c.58+1057G>T	ENSP00000462187.1:n.58+1057G>T
NM_022068.3:c.8153G>T	NP_071351.2:p.Arg2718Leu
XM_011525723.1:c.8285G>T	XP_011524025.1:p.Arg2762Leu
XM_011525724.1:c.8228G>T	XP_011524026.1:p.Arg2743Leu
XM_011525725.1:c.8195G>T	XP_011524027.1:p.Arg2732Leu
XM_011525726.1:c.8102G>T	XP_011524028.1:p.Arg2701Leu
XM_011525723.3:c.8285G>T	XP_011524025.1:p.Arg2762Leu
XM_011525724.3:c.8228G>T	XP_011524026.1:p.Arg2743Leu
XM_011525725.3:c.8195G>T	XP_011524027.1:p.Arg2732Leu
XM_011525726.3:c.8102G>T	XP_011524028.1:p.Arg2701Leu
XM_017025918.2:c.8246G>T	XP_016881407.1:p.Arg2749Leu
NM_001378183.1:c.8492G>T MANE Select	NP_001365112.1:p.Arg2831Leu
NM_022068.4:c.8153G>T	NP_071351.2:p.Arg2718Leu