Canonical Allele Identifier: CA10581454

Gene: PIEZO2

Linked Data

• ClinVar Variation Id: 235843
• ClinVar RCV Id: RCV000224516
• dbSNP Id: rs878853140
• MyVariant Identifiers: chr18:g.10762975A>G (hg19) ; chr18:g.10762977A>G (hg38)
• PubMed: PMID:24726473

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.10762977A>G , CM000680.2:g.10762977A>G	GRCh38
NC_000018.9:g.10762975A>G , CM000680.1:g.10762975A>G	GRCh37
NC_000018.8:g.10752975A>G	NCBI36
NG_034005.1:g.390786T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383408.7:c.3068T>C	ENSP00000372900.4:p.Met1023Thr
ENST00000686869.1:n.3125T>C
ENST00000674853.1:c.3068T>C MANE Select	ENSP00000501957.1:p.Met1023Thr
ENST00000302079.10:c.2993T>C	ENSP00000303316.6:p.Met998Thr
ENST00000383408.6:c.2846T>C	ENSP00000372900.3:p.Met949Thr
ENST00000503781.7:c.2993T>C	ENSP00000421377.3:p.Met998Thr
ENST00000580640.5:c.3068T>C	ENSP00000463094.1:p.Met1023Thr
ENST00000582913.5:c.3035T>C	ENSP00000462115.1:p.Met1012Thr
NM_022068.3:c.2993T>C	NP_071351.2:p.Met998Thr
XM_011525723.1:c.3125T>C	XP_011524025.1:p.Met1042Thr
XM_011525724.1:c.3068T>C	XP_011524026.1:p.Met1023Thr
XM_011525725.1:c.3035T>C	XP_011524027.1:p.Met1012Thr
XM_011525726.1:c.3125T>C	XP_011524028.1:p.Met1042Thr
XM_011525727.1:c.3125T>C	XP_011524029.1:p.Met1042Thr
XM_011525723.3:c.3125T>C	XP_011524025.1:p.Met1042Thr
XM_011525724.3:c.3068T>C	XP_011524026.1:p.Met1023Thr
XM_011525725.3:c.3035T>C	XP_011524027.1:p.Met1012Thr
XM_011525726.3:c.3125T>C	XP_011524028.1:p.Met1042Thr
XM_017025918.2:c.3086T>C	XP_016881407.1:p.Met1029Thr
XR_001753259.2:n.4122T>C
NM_001378183.1:c.3068T>C MANE Select	NP_001365112.1:p.Met1023Thr
NM_022068.4:c.2993T>C	NP_071351.2:p.Met998Thr