Canonical Allele Identifier: CA8892576

Gene: PIEZO2

Linked Data

• dbSNP Id: rs552989428
• ExAC: 18:10762546 T / A
• gnomAD v2: 18-10762546-T-A
• gnomAD v3: 18-10762548-T-A
• gnomAD v4: 18-10762548-T-A
• MyVariant Identifiers: chr18:g.10762546T>A (hg19) ; chr18:g.10762548T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.10762548T>A , CM000680.2:g.10762548T>A	GRCh38
NC_000018.9:g.10762546T>A , CM000680.1:g.10762546T>A	GRCh37
NC_000018.8:g.10752546T>A	NCBI36
NG_034005.1:g.391215A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383408.7:c.3201A>T	ENSP00000372900.4:p.Thr1067=
ENST00000686869.1:n.3258A>T
ENST00000674853.1:c.3201A>T MANE Select	ENSP00000501957.1:p.Thr1067=
ENST00000302079.10:c.3126A>T	ENSP00000303316.6:p.Thr1042=
ENST00000383408.6:c.2979A>T	ENSP00000372900.3:p.Thr993=
ENST00000503781.7:c.3126A>T	ENSP00000421377.3:p.Thr1042=
ENST00000580640.5:c.3201A>T	ENSP00000463094.1:p.Thr1067=
ENST00000582913.5:c.3168A>T	ENSP00000462115.1:p.Thr1056=
NM_022068.3:c.3126A>T	NP_071351.2:p.Thr1042=
XM_011525723.1:c.3258A>T	XP_011524025.1:p.Thr1086=
XM_011525724.1:c.3201A>T	XP_011524026.1:p.Thr1067=
XM_011525725.1:c.3168A>T	XP_011524027.1:p.Thr1056=
XM_011525726.1:c.3258A>T	XP_011524028.1:p.Thr1086=
XM_011525727.1:c.3258A>T	XP_011524029.1:p.Thr1086=
XM_011525723.3:c.3258A>T	XP_011524025.1:p.Thr1086=
XM_011525724.3:c.3201A>T	XP_011524026.1:p.Thr1067=
XM_011525725.3:c.3168A>T	XP_011524027.1:p.Thr1056=
XM_011525726.3:c.3258A>T	XP_011524028.1:p.Thr1086=
XM_017025918.2:c.3219A>T	XP_016881407.1:p.Thr1073=
XR_001753259.2:n.4255A>T
NM_001378183.1:c.3201A>T MANE Select	NP_001365112.1:p.Thr1067=
NM_022068.4:c.3126A>T	NP_071351.2:p.Thr1042=