Canonical Allele Identifier: CA10581453
Gene: PIEZO2 HGNC NCBI

Linked Data

ClinVar Variation Id: 235842
ClinVar RCV Id: RCV000224177
dbSNP Id: rs878853139
MyVariant Identifiers: chr18:g.10696261G>A (hg19) chr18:g.10696263G>A (hg38)
PubMed: PMID:24726473
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.10696263G>A , CM000680.2:g.10696263G>A GRCh38
NC_000018.9:g.10696261G>A , CM000680.1:g.10696261G>A GRCh37
NC_000018.8:g.10686261G>A NCBI36
NG_034005.1:g.457500C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000383408.7:c.*103C>T ENSP00000372900.4:n.*103C>T
ENST00000685517.1:n.1740C>T
ENST00000674853.1:c.7001C>T MANE Select ENSP00000501957.1:p.Thr2334Ile
ENST00000302079.10:c.6662C>T ENSP00000303316.6:p.Thr2221Ile
ENST00000383408.6:c.6515C>T ENSP00000372900.3:p.Thr2172Ile
ENST00000503781.7:c.6662C>T ENSP00000421377.3:p.Thr2221Ile
ENST00000538948.5:c.533C>T ENSP00000443129.1:p.Thr178Ile
ENST00000580640.5:c.6737C>T ENSP00000463094.1:p.Thr2246Ile
ENST00000582913.5:c.6868C>T ENSP00000462115.1:n.6868C>T
NM_022068.3:c.6662C>T NP_071351.2:p.Thr2221Ile
XM_011525723.1:c.6794C>T XP_011524025.1:p.Thr2265Ile
XM_011525724.1:c.6737C>T XP_011524026.1:p.Thr2246Ile
XM_011525725.1:c.6704C>T XP_011524027.1:p.Thr2235Ile
XM_011525726.1:c.6611C>T XP_011524028.1:p.Thr2204Ile
XM_011525723.3:c.6794C>T XP_011524025.1:p.Thr2265Ile
XM_011525724.3:c.6737C>T XP_011524026.1:p.Thr2246Ile
XM_011525725.3:c.6704C>T XP_011524027.1:p.Thr2235Ile
XM_011525726.3:c.6611C>T XP_011524028.1:p.Thr2204Ile
XM_017025918.2:c.6755C>T XP_016881407.1:p.Thr2252Ile
XR_001753259.2:n.7791C>T
NM_001378183.1:c.7001C>T MANE Select NP_001365112.1:p.Thr2334Ile
NM_022068.4:c.6662C>T NP_071351.2:p.Thr2221Ile
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