Canonical Allele Identifier: CA502900381

Gene: PIEZO2

Linked Data

• gnomAD v4: 18-10762533-C-T
• MyVariant Identifiers: chr18:g.10762531C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.10762533C>T , CM000680.2:g.10762533C>T	GRCh38
NC_000018.9:g.10762531C>T , CM000680.1:g.10762531C>T	GRCh37
NC_000018.8:g.10752531C>T	NCBI36
NG_034005.1:g.391230G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383408.7:c.3216G>A	ENSP00000372900.4:p.Leu1072=
ENST00000686869.1:n.3273G>A
ENST00000674853.1:c.3216G>A MANE Select	ENSP00000501957.1:p.Leu1072=
ENST00000302079.10:c.3141G>A	ENSP00000303316.6:p.Leu1047=
ENST00000383408.6:c.2994G>A	ENSP00000372900.3:p.Leu998=
ENST00000503781.7:c.3141G>A	ENSP00000421377.3:p.Leu1047=
ENST00000580640.5:c.3216G>A	ENSP00000463094.1:p.Leu1072=
ENST00000582913.5:c.3183G>A	ENSP00000462115.1:p.Leu1061=
NM_022068.3:c.3141G>A	NP_071351.2:p.Leu1047=
XM_011525723.1:c.3273G>A	XP_011524025.1:p.Leu1091=
XM_011525724.1:c.3216G>A	XP_011524026.1:p.Leu1072=
XM_011525725.1:c.3183G>A	XP_011524027.1:p.Leu1061=
XM_011525726.1:c.3273G>A	XP_011524028.1:p.Leu1091=
XM_011525727.1:c.3273G>A	XP_011524029.1:p.Leu1091=
XM_011525723.3:c.3273G>A	XP_011524025.1:p.Leu1091=
XM_011525724.3:c.3216G>A	XP_011524026.1:p.Leu1072=
XM_011525725.3:c.3183G>A	XP_011524027.1:p.Leu1061=
XM_011525726.3:c.3273G>A	XP_011524028.1:p.Leu1091=
XM_017025918.2:c.3234G>A	XP_016881407.1:p.Leu1078=
XR_001753259.2:n.4270G>A
NM_001378183.1:c.3216G>A MANE Select	NP_001365112.1:p.Leu1072=
NM_022068.4:c.3141G>A	NP_071351.2:p.Leu1047=