Canonical Allele Identifier: CA628486162

Gene: PIEZO2

Linked Data

• dbSNP Id: rs1182768800
• gnomAD v2: 18-10762601-ATGTT-A
• gnomAD v3: 18-10762603-ATGTT-A
• gnomAD v4: 18-10762603-ATGTT-A
• MyVariant Identifiers: chr18:g.10762602_10762605del (hg19) ; chr18:g.10762604_10762607del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.10762610_10762613del , CM000680.2:g.10762610_10762613del	GRCh38
NC_000018.9:g.10762608_10762611del , CM000680.1:g.10762608_10762611del	GRCh37
NC_000018.8:g.10752608_10752611del	NCBI36
NG_034005.1:g.391156_391159del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383408.7:c.3142_3145del	ENSP00000372900.4:p.Asn1048SerfsTer6
ENST00000686869.1:n.3199_3202del
ENST00000674853.1:c.3142_3145del MANE Select	ENSP00000501957.1:p.Asn1048SerfsTer6
ENST00000302079.10:c.3067_3070del	ENSP00000303316.6:p.Asn1023SerfsTer6
ENST00000383408.6:c.2920_2923del	ENSP00000372900.3:p.Asn974SerfsTer6
ENST00000503781.7:c.3067_3070del	ENSP00000421377.3:p.Asn1023SerfsTer6
ENST00000580640.5:c.3142_3145del	ENSP00000463094.1:p.Asn1048SerfsTer6
ENST00000582913.5:c.3109_3112del	ENSP00000462115.1:p.Asn1037SerfsTer6
NM_022068.3:c.3067_3070del	NP_071351.2:p.Asn1023SerfsTer6
XM_011525723.1:c.3199_3202del	XP_011524025.1:p.Asn1067SerfsTer6
XM_011525724.1:c.3142_3145del	XP_011524026.1:p.Asn1048SerfsTer6
XM_011525725.1:c.3109_3112del	XP_011524027.1:p.Asn1037SerfsTer6
XM_011525726.1:c.3199_3202del	XP_011524028.1:p.Asn1067SerfsTer6
XM_011525727.1:c.3199_3202del	XP_011524029.1:p.Asn1067SerfsTer6
XM_011525723.3:c.3199_3202del	XP_011524025.1:p.Asn1067SerfsTer6
XM_011525724.3:c.3142_3145del	XP_011524026.1:p.Asn1048SerfsTer6
XM_011525725.3:c.3109_3112del	XP_011524027.1:p.Asn1037SerfsTer6
XM_011525726.3:c.3199_3202del	XP_011524028.1:p.Asn1067SerfsTer6
XM_017025918.2:c.3160_3163del	XP_016881407.1:p.Asn1054SerfsTer6
XR_001753259.2:n.4196_4199del
NM_001378183.1:c.3142_3145del MANE Select	NP_001365112.1:p.Asn1048SerfsTer6
NM_022068.4:c.3067_3070del	NP_071351.2:p.Asn1023SerfsTer6