Canonical Allele Identifier: CA149688

Gene: PIEZO2

Linked Data

• ClinVar Variation Id: 235839
• ClinVar RCV Id: RCV000224433 ; RCV000415170 ; RCV000487334 ; RCV001007806
• dbSNP Id: rs1555621138
• gnomAD v3: 18-10671602-ATCT-A
• gnomAD v4: 18-10671602-ATCT-A
• MyVariant Identifiers: chr18:g.10671600_10671602del (hg19) ; chr18:g.10671603_10671605del (hg38)
• PubMed: PMID:11146470 ; PMID:17345626 ; PMID:23487782 ; PMID:24726473

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.10671609_10671611del , CM000680.2:g.10671609_10671611del	GRCh38
NC_000018.9:g.10671606_10671608del , CM000680.1:g.10671606_10671608del	GRCh37
NC_000018.8:g.10661606_10661608del	NCBI36
NG_034005.1:g.482158_482160del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383408.7:c.*1622_*1624del	ENSP00000372900.4:n.*1622_*1624del
ENST00000685517.1:n.3263_3265del
ENST00000691469.1:n.2418_2420del
ENST00000693743.1:c.1716_1718del	ENSP00000510331.1:n.1716_1718del
ENST00000674853.1:c.8520_8522del MANE Select	ENSP00000501957.1:p.Glu2840del
ENST00000302079.10:c.7992_7994del	ENSP00000303316.6:p.Glu2664del
ENST00000383408.6:c.8034_8036del	ENSP00000372900.3:p.Glu2678del
ENST00000503781.7:c.8181_8183del	ENSP00000421377.3:p.Glu2727del
ENST00000538948.5:c.2052_2054del	ENSP00000443129.1:p.Glu684del
ENST00000580640.5:c.8256_8258del	ENSP00000463094.1:p.Glu2752del
ENST00000582913.5:c.8387_8389del	ENSP00000462115.1:n.8387_8389del
ENST00000582937.1:c.58+1085_58+1087del	ENSP00000462187.1:n.58+1085_58+1087del
NM_022068.3:c.8181_8183del	NP_071351.2:p.Glu2727del
XM_011525723.1:c.8313_8315del	XP_011524025.1:p.Glu2771del
XM_011525724.1:c.8256_8258del	XP_011524026.1:p.Glu2752del
XM_011525725.1:c.8223_8225del	XP_011524027.1:p.Glu2741del
XM_011525726.1:c.8130_8132del	XP_011524028.1:p.Glu2710del
XM_011525723.3:c.8313_8315del	XP_011524025.1:p.Glu2771del
XM_011525724.3:c.8256_8258del	XP_011524026.1:p.Glu2752del
XM_011525725.3:c.8223_8225del	XP_011524027.1:p.Glu2741del
XM_011525726.3:c.8130_8132del	XP_011524028.1:p.Glu2710del
XM_017025918.2:c.8274_8276del	XP_016881407.1:p.Glu2758del
NM_001378183.1:c.8520_8522del MANE Select	NP_001365112.1:p.Glu2840del
NM_022068.4:c.8181_8183del	NP_071351.2:p.Glu2727del