Canonical Allele Identifier: CA401923680

Gene: PIEZO2

Linked Data

• MyVariant Identifiers: chr18:g.10762586A>C (hg19) ; chr18:g.10762588A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.10762588A>C , CM000680.2:g.10762588A>C	GRCh38
NC_000018.9:g.10762586A>C , CM000680.1:g.10762586A>C	GRCh37
NC_000018.8:g.10752586A>C	NCBI36
NG_034005.1:g.391175T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383408.7:c.3161T>G	ENSP00000372900.4:p.Leu1054Trp
ENST00000686869.1:n.3218T>G
ENST00000674853.1:c.3161T>G MANE Select	ENSP00000501957.1:p.Leu1054Trp
ENST00000302079.10:c.3086T>G	ENSP00000303316.6:p.Leu1029Trp
ENST00000383408.6:c.2939T>G	ENSP00000372900.3:p.Leu980Trp
ENST00000503781.7:c.3086T>G	ENSP00000421377.3:p.Leu1029Trp
ENST00000580640.5:c.3161T>G	ENSP00000463094.1:p.Leu1054Trp
ENST00000582913.5:c.3128T>G	ENSP00000462115.1:p.Leu1043Trp
NM_022068.3:c.3086T>G	NP_071351.2:p.Leu1029Trp
XM_011525723.1:c.3218T>G	XP_011524025.1:p.Leu1073Trp
XM_011525724.1:c.3161T>G	XP_011524026.1:p.Leu1054Trp
XM_011525725.1:c.3128T>G	XP_011524027.1:p.Leu1043Trp
XM_011525726.1:c.3218T>G	XP_011524028.1:p.Leu1073Trp
XM_011525727.1:c.3218T>G	XP_011524029.1:p.Leu1073Trp
XM_011525723.3:c.3218T>G	XP_011524025.1:p.Leu1073Trp
XM_011525724.3:c.3161T>G	XP_011524026.1:p.Leu1054Trp
XM_011525725.3:c.3128T>G	XP_011524027.1:p.Leu1043Trp
XM_011525726.3:c.3218T>G	XP_011524028.1:p.Leu1073Trp
XM_017025918.2:c.3179T>G	XP_016881407.1:p.Leu1060Trp
XR_001753259.2:n.4215T>G
NM_001378183.1:c.3161T>G MANE Select	NP_001365112.1:p.Leu1054Trp
NM_022068.4:c.3086T>G	NP_071351.2:p.Leu1029Trp