Canonical Allele Identifier: CA401910296

Gene: PIEZO2

Linked Data

• dbSNP Id: rs2035533503
• gnomAD v3: 18-10705381-G-A
• gnomAD v4: 18-10705381-G-A
• MyVariant Identifiers: chr18:g.10705379G>A (hg19) ; chr18:g.10705381G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.10705381G>A , CM000680.2:g.10705381G>A	GRCh38
NC_000018.9:g.10705379G>A , CM000680.1:g.10705379G>A	GRCh37
NC_000018.8:g.10695379G>A	NCBI36
NG_034005.1:g.448382C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000383408.7:c.5690C>T	ENSP00000372900.4:p.Pro1897Leu
ENST00000643712.1:c.698C>T	ENSP00000493635.1:p.Pro233Leu
ENST00000674853.1:c.5954C>T MANE Select	ENSP00000501957.1:p.Pro1985Leu
ENST00000302079.10:c.5615C>T	ENSP00000303316.6:p.Pro1872Leu
ENST00000383408.6:c.5468C>T	ENSP00000372900.3:p.Pro1823Leu
ENST00000503781.7:c.5615C>T	ENSP00000421377.3:p.Pro1872Leu
ENST00000580640.5:c.5690C>T	ENSP00000463094.1:p.Pro1897Leu
ENST00000582913.5:c.5821C>T	ENSP00000462115.1:n.5821C>T
NM_022068.3:c.5615C>T	NP_071351.2:p.Pro1872Leu
XM_011525723.1:c.5747C>T	XP_011524025.1:p.Pro1916Leu
XM_011525724.1:c.5690C>T	XP_011524026.1:p.Pro1897Leu
XM_011525725.1:c.5657C>T	XP_011524027.1:p.Pro1886Leu
XM_011525726.1:c.5747C>T	XP_011524028.1:p.Pro1916Leu
XM_011525723.3:c.5747C>T	XP_011524025.1:p.Pro1916Leu
XM_011525724.3:c.5690C>T	XP_011524026.1:p.Pro1897Leu
XM_011525725.3:c.5657C>T	XP_011524027.1:p.Pro1886Leu
XM_011525726.3:c.5747C>T	XP_011524028.1:p.Pro1916Leu
XM_017025918.2:c.5708C>T	XP_016881407.1:p.Pro1903Leu
XR_001753259.2:n.6744C>T
NM_001378183.1:c.5954C>T MANE Select	NP_001365112.1:p.Pro1985Leu
NM_022068.4:c.5615C>T	NP_071351.2:p.Pro1872Leu