Canonical Allele Identifier: CA163200

Gene: PIEZO2

Linked Data

• ClinVar Variation Id: 137634
• ClinVar RCV Id: RCV000125483
• dbSNP Id: rs587777454
• MyVariant Identifiers: chr18:g.10671568A>G (hg19) ; chr18:g.10671571A>G (hg38)
• PubMed: PMID:1941966 ; PMID:24726473

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.10671571A>G , CM000680.2:g.10671571A>G	GRCh38
NC_000018.9:g.10671568A>G , CM000680.1:g.10671568A>G	GRCh37
NC_000018.8:g.10661568A>G	NCBI36
NG_034005.1:g.482192T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383408.7:c.*1656T>C	ENSP00000372900.4:n.*1656T>C
ENST00000685517.1:n.3297T>C
ENST00000691469.1:n.2452T>C
ENST00000693743.1:c.1750T>C	ENSP00000510331.1:n.1750T>C
ENST00000674853.1:c.8554T>C MANE Select	ENSP00000501957.1:p.Ser2852Pro
ENST00000302079.10:c.8026T>C	ENSP00000303316.6:p.Ser2676Pro
ENST00000383408.6:c.8068T>C	ENSP00000372900.3:p.Ser2690Pro
ENST00000503781.7:c.8215T>C	ENSP00000421377.3:p.Ser2739Pro
ENST00000538948.5:c.2086T>C	ENSP00000443129.1:p.Ser696Pro
ENST00000580640.5:c.8290T>C	ENSP00000463094.1:p.Ser2764Pro
ENST00000582913.5:c.8421T>C	ENSP00000462115.1:n.8421T>C
ENST00000582937.1:c.58+1119T>C	ENSP00000462187.1:n.58+1119T>C
NM_022068.3:c.8215T>C	NP_071351.2:p.Ser2739Pro
XM_011525723.1:c.8347T>C	XP_011524025.1:p.Ser2783Pro
XM_011525724.1:c.8290T>C	XP_011524026.1:p.Ser2764Pro
XM_011525725.1:c.8257T>C	XP_011524027.1:p.Ser2753Pro
XM_011525726.1:c.8164T>C	XP_011524028.1:p.Ser2722Pro
XM_011525723.3:c.8347T>C	XP_011524025.1:p.Ser2783Pro
XM_011525724.3:c.8290T>C	XP_011524026.1:p.Ser2764Pro
XM_011525725.3:c.8257T>C	XP_011524027.1:p.Ser2753Pro
XM_011525726.3:c.8164T>C	XP_011524028.1:p.Ser2722Pro
XM_017025918.2:c.8308T>C	XP_016881407.1:p.Ser2770Pro
NM_001378183.1:c.8554T>C MANE Select	NP_001365112.1:p.Ser2852Pro
NM_022068.4:c.8215T>C	NP_071351.2:p.Ser2739Pro