Canonical Allele Identifier: CA401920388

Gene: PIEZO2

Linked Data

• MyVariant Identifiers: chr18:g.10784879G>C (hg19) ; chr18:g.10784881G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.10784881G>C , CM000680.2:g.10784881G>C	GRCh38
NC_000018.9:g.10784879G>C , CM000680.1:g.10784879G>C	GRCh37
NC_000018.8:g.10774879G>C	NCBI36
NG_034005.1:g.368882C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383408.7:c.2395C>G	ENSP00000372900.4:p.Leu799Val
ENST00000686869.1:n.2452C>G
ENST00000674853.1:c.2395C>G MANE Select	ENSP00000501957.1:p.Leu799Val
ENST00000302079.10:c.2395C>G	ENSP00000303316.6:p.Leu799Val
ENST00000383408.6:c.2242C>G	ENSP00000372900.3:p.Leu748Val
ENST00000503781.7:c.2395C>G	ENSP00000421377.3:p.Leu799Val
ENST00000580640.5:c.2395C>G	ENSP00000463094.1:p.Leu799Val
ENST00000582913.5:c.2395C>G	ENSP00000462115.1:p.Leu799Val
ENST00000583325.1:c.382C>G	ENSP00000462560.1:p.Leu128Val
NM_022068.3:c.2395C>G	NP_071351.2:p.Leu799Val
XM_011525723.1:c.2395C>G	XP_011524025.1:p.Leu799Val
XM_011525724.1:c.2395C>G	XP_011524026.1:p.Leu799Val
XM_011525725.1:c.2395C>G	XP_011524027.1:p.Leu799Val
XM_011525726.1:c.2395C>G	XP_011524028.1:p.Leu799Val
XM_011525727.1:c.2395C>G	XP_011524029.1:p.Leu799Val
XM_011525723.3:c.2395C>G	XP_011524025.1:p.Leu799Val
XM_011525724.3:c.2395C>G	XP_011524026.1:p.Leu799Val
XM_011525725.3:c.2395C>G	XP_011524027.1:p.Leu799Val
XM_011525726.3:c.2395C>G	XP_011524028.1:p.Leu799Val
XM_017025918.2:c.2356C>G	XP_016881407.1:p.Leu786Val
XR_001753259.2:n.3392C>G
NM_001378183.1:c.2395C>G MANE Select	NP_001365112.1:p.Leu799Val
NM_022068.4:c.2395C>G	NP_071351.2:p.Leu799Val