Canonical Allele Identifier: CA401910289

Gene: PIEZO2

Linked Data

• gnomAD v4: 18-10705376-G-C
• MyVariant Identifiers: chr18:g.10705374G>C (hg19) ; chr18:g.10705376G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.10705376G>C , CM000680.2:g.10705376G>C	GRCh38
NC_000018.9:g.10705374G>C , CM000680.1:g.10705374G>C	GRCh37
NC_000018.8:g.10695374G>C	NCBI36
NG_034005.1:g.448387C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000383408.7:c.5695C>G	ENSP00000372900.4:p.Leu1899Val
ENST00000643712.1:c.703C>G	ENSP00000493635.1:p.Leu235Val
ENST00000674853.1:c.5959C>G MANE Select	ENSP00000501957.1:p.Leu1987Val
ENST00000302079.10:c.5620C>G	ENSP00000303316.6:p.Leu1874Val
ENST00000383408.6:c.5473C>G	ENSP00000372900.3:p.Leu1825Val
ENST00000503781.7:c.5620C>G	ENSP00000421377.3:p.Leu1874Val
ENST00000580640.5:c.5695C>G	ENSP00000463094.1:p.Leu1899Val
ENST00000582913.5:c.5826C>G	ENSP00000462115.1:n.5826C>G
NM_022068.3:c.5620C>G	NP_071351.2:p.Leu1874Val
XM_011525723.1:c.5752C>G	XP_011524025.1:p.Leu1918Val
XM_011525724.1:c.5695C>G	XP_011524026.1:p.Leu1899Val
XM_011525725.1:c.5662C>G	XP_011524027.1:p.Leu1888Val
XM_011525726.1:c.5752C>G	XP_011524028.1:p.Leu1918Val
XM_011525723.3:c.5752C>G	XP_011524025.1:p.Leu1918Val
XM_011525724.3:c.5695C>G	XP_011524026.1:p.Leu1899Val
XM_011525725.3:c.5662C>G	XP_011524027.1:p.Leu1888Val
XM_011525726.3:c.5752C>G	XP_011524028.1:p.Leu1918Val
XM_017025918.2:c.5713C>G	XP_016881407.1:p.Leu1905Val
XR_001753259.2:n.6749C>G
NM_001378183.1:c.5959C>G MANE Select	NP_001365112.1:p.Leu1987Val
NM_022068.4:c.5620C>G	NP_071351.2:p.Leu1874Val