Canonical Allele Identifier: CA401911703

Gene: PIEZO2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.10671571A>T , CM000680.2:g.10671571A>T	GRCh38
NC_000018.9:g.10671568A>T , CM000680.1:g.10671568A>T	GRCh37
NC_000018.8:g.10661568A>T	NCBI36
NG_034005.1:g.482192T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001378183.1:c.8554T>A MANE Select	NP_001365112.1:p.Ser2852Thr
ENST00000674853.1:c.8554T>A MANE Select	ENSP00000501957.1:p.Ser2852Thr
NM_022068.3:c.8215T>A	NP_071351.2:p.Ser2739Thr
NM_022068.4:c.8215T>A	NP_071351.2:p.Ser2739Thr
ENST00000302079.10:c.8026T>A	ENSP00000303316.6:p.Ser2676Thr
ENST00000383408.6:c.8068T>A	ENSP00000372900.3:p.Ser2690Thr
ENST00000383408.7:c.*1656T>A	ENSP00000372900.4:n.*1656T>A
ENST00000503781.7:c.8215T>A	ENSP00000421377.3:p.Ser2739Thr
ENST00000538948.5:c.2086T>A	ENSP00000443129.1:p.Ser696Thr
ENST00000580640.5:c.8290T>A	ENSP00000463094.1:p.Ser2764Thr
ENST00000582913.5:c.8421T>A	ENSP00000462115.1:n.8421T>A
ENST00000582937.1:c.58+1119T>A	ENSP00000462187.1:n.58+1119T>A
ENST00000685517.1:n.3297T>A
ENST00000691469.1:n.2452T>A
ENST00000693743.1:c.1750T>A	ENSP00000510331.1:n.1750T>A
XM_011525723.1:c.8347T>A	XP_011524025.1:p.Ser2783Thr
XM_011525723.3:c.8347T>A	XP_011524025.1:p.Ser2783Thr
XM_011525724.1:c.8290T>A	XP_011524026.1:p.Ser2764Thr
XM_011525724.3:c.8290T>A	XP_011524026.1:p.Ser2764Thr
XM_011525725.1:c.8257T>A	XP_011524027.1:p.Ser2753Thr
XM_011525725.3:c.8257T>A	XP_011524027.1:p.Ser2753Thr
XM_011525726.1:c.8164T>A	XP_011524028.1:p.Ser2722Thr
XM_011525726.3:c.8164T>A	XP_011524028.1:p.Ser2722Thr
XM_017025918.2:c.8308T>A	XP_016881407.1:p.Ser2770Thr