Canonical Allele Identifier: CA401918022

Gene: PIEZO2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.10696227A>C , CM000680.2:g.10696227A>C	GRCh38
NC_000018.9:g.10696225A>C , CM000680.1:g.10696225A>C	GRCh37
NC_000018.8:g.10686225A>C	NCBI36
NG_034005.1:g.457536T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001378183.1:c.7037T>G MANE Select	NP_001365112.1:p.Phe2346Cys
ENST00000674853.1:c.7037T>G MANE Select	ENSP00000501957.1:p.Phe2346Cys
NM_022068.3:c.6698T>G	NP_071351.2:p.Phe2233Cys
NM_022068.4:c.6698T>G	NP_071351.2:p.Phe2233Cys
ENST00000302079.10:c.6698T>G	ENSP00000303316.6:p.Phe2233Cys
ENST00000383408.6:c.6551T>G	ENSP00000372900.3:p.Phe2184Cys
ENST00000383408.7:c.*139T>G	ENSP00000372900.4:n.*139T>G
ENST00000503781.7:c.6698T>G	ENSP00000421377.3:p.Phe2233Cys
ENST00000538948.5:c.569T>G	ENSP00000443129.1:p.Phe190Cys
ENST00000580640.5:c.6773T>G	ENSP00000463094.1:p.Phe2258Cys
ENST00000582913.5:c.6904T>G	ENSP00000462115.1:n.6904T>G
ENST00000685517.1:n.1776T>G
ENST00000693743.1:c.8T>G	ENSP00000510331.1:p.Phe3Cys
XM_011525723.1:c.6830T>G	XP_011524025.1:p.Phe2277Cys
XM_011525723.3:c.6830T>G	XP_011524025.1:p.Phe2277Cys
XM_011525724.1:c.6773T>G	XP_011524026.1:p.Phe2258Cys
XM_011525724.3:c.6773T>G	XP_011524026.1:p.Phe2258Cys
XM_011525725.1:c.6740T>G	XP_011524027.1:p.Phe2247Cys
XM_011525725.3:c.6740T>G	XP_011524027.1:p.Phe2247Cys
XM_011525726.1:c.6647T>G	XP_011524028.1:p.Phe2216Cys
XM_011525726.3:c.6647T>G	XP_011524028.1:p.Phe2216Cys
XM_017025918.2:c.6791T>G	XP_016881407.1:p.Phe2264Cys
XR_001753259.2:n.7827T>G