Canonical Allele Identifier: CA401920385

Gene: PIEZO2

Linked Data

• MyVariant Identifiers: chr18:g.10784878A>C (hg19) ; chr18:g.10784880A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.10784880A>C , CM000680.2:g.10784880A>C	GRCh38
NC_000018.9:g.10784878A>C , CM000680.1:g.10784878A>C	GRCh37
NC_000018.8:g.10774878A>C	NCBI36
NG_034005.1:g.368883T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383408.7:c.2396T>G	ENSP00000372900.4:p.Leu799Arg
ENST00000686869.1:n.2453T>G
ENST00000674853.1:c.2396T>G MANE Select	ENSP00000501957.1:p.Leu799Arg
ENST00000302079.10:c.2396T>G	ENSP00000303316.6:p.Leu799Arg
ENST00000383408.6:c.2243T>G	ENSP00000372900.3:p.Leu748Arg
ENST00000503781.7:c.2396T>G	ENSP00000421377.3:p.Leu799Arg
ENST00000580640.5:c.2396T>G	ENSP00000463094.1:p.Leu799Arg
ENST00000582913.5:c.2396T>G	ENSP00000462115.1:p.Leu799Arg
ENST00000583325.1:c.383T>G	ENSP00000462560.1:p.Leu128Arg
NM_022068.3:c.2396T>G	NP_071351.2:p.Leu799Arg
XM_011525723.1:c.2396T>G	XP_011524025.1:p.Leu799Arg
XM_011525724.1:c.2396T>G	XP_011524026.1:p.Leu799Arg
XM_011525725.1:c.2396T>G	XP_011524027.1:p.Leu799Arg
XM_011525726.1:c.2396T>G	XP_011524028.1:p.Leu799Arg
XM_011525727.1:c.2396T>G	XP_011524029.1:p.Leu799Arg
XM_011525723.3:c.2396T>G	XP_011524025.1:p.Leu799Arg
XM_011525724.3:c.2396T>G	XP_011524026.1:p.Leu799Arg
XM_011525725.3:c.2396T>G	XP_011524027.1:p.Leu799Arg
XM_011525726.3:c.2396T>G	XP_011524028.1:p.Leu799Arg
XM_017025918.2:c.2357T>G	XP_016881407.1:p.Leu786Arg
XR_001753259.2:n.3393T>G
NM_001378183.1:c.2396T>G MANE Select	NP_001365112.1:p.Leu799Arg
NM_022068.4:c.2396T>G	NP_071351.2:p.Leu799Arg