Canonical Allele Identifier: CA2576456616

Gene: PIEZO2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.10762549_10762550del , CM000680.2:g.10762549_10762550del	GRCh38
NC_000018.9:g.10762547_10762548del , CM000680.1:g.10762547_10762548del	GRCh37
NC_000018.8:g.10752547_10752548del	NCBI36
NG_034005.1:g.391214_391215del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383408.7:c.3200_3201del	ENSP00000372900.4:p.Thr1067ArgfsTer18
ENST00000686869.1:n.3257_3258del
ENST00000674853.1:c.3200_3201del MANE Select	ENSP00000501957.1:p.Thr1067ArgfsTer18
ENST00000302079.10:c.3125_3126del	ENSP00000303316.6:p.Thr1042ArgfsTer18
ENST00000383408.6:c.2978_2979del	ENSP00000372900.3:p.Thr993ArgfsTer18
ENST00000503781.7:c.3125_3126del	ENSP00000421377.3:p.Thr1042ArgfsTer18
ENST00000580640.5:c.3200_3201del	ENSP00000463094.1:p.Thr1067ArgfsTer18
ENST00000582913.5:c.3167_3168del	ENSP00000462115.1:p.Thr1056ArgfsTer18
NM_022068.3:c.3125_3126del	NP_071351.2:p.Thr1042ArgfsTer18
XM_011525723.1:c.3257_3258del	XP_011524025.1:p.Thr1086ArgfsTer18
XM_011525724.1:c.3200_3201del	XP_011524026.1:p.Thr1067ArgfsTer18
XM_011525725.1:c.3167_3168del	XP_011524027.1:p.Thr1056ArgfsTer18
XM_011525726.1:c.3257_3258del	XP_011524028.1:p.Thr1086ArgfsTer18
XM_011525727.1:c.3257_3258del	XP_011524029.1:p.Thr1086ArgfsTer18
XM_011525723.3:c.3257_3258del	XP_011524025.1:p.Thr1086ArgfsTer18
XM_011525724.3:c.3200_3201del	XP_011524026.1:p.Thr1067ArgfsTer18
XM_011525725.3:c.3167_3168del	XP_011524027.1:p.Thr1056ArgfsTer18
XM_011525726.3:c.3257_3258del	XP_011524028.1:p.Thr1086ArgfsTer18
XM_017025918.2:c.3218_3219del	XP_016881407.1:p.Thr1073ArgfsTer18
XR_001753259.2:n.4254_4255del
NM_001378183.1:c.3200_3201del MANE Select	NP_001365112.1:p.Thr1067ArgfsTer18
NM_022068.4:c.3125_3126del	NP_071351.2:p.Thr1042ArgfsTer18