Canonical Allele Identifier: CA401911836
Gene: PIEZO2 HGNC NCBI
ClinVar Variation:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.10671633C>T , CM000680.2:g.10671633C>T GRCh38
NC_000018.9:g.10671630C>T , CM000680.1:g.10671630C>T GRCh37
NC_000018.8:g.10661630C>T NCBI36
NG_034005.1:g.482130G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000383408.7:c.*1594G>A ENSP00000372900.4:n.*1594G>A
ENST00000685517.1:n.3235G>A
ENST00000691469.1:n.2390G>A
ENST00000693743.1:c.1688G>A ENSP00000510331.1:n.1688G>A
ENST00000674853.1:c.8492G>A MANE Select ENSP00000501957.1:p.Arg2831Gln
ENST00000302079.10:c.7964G>A ENSP00000303316.6:p.Arg2655Gln
ENST00000383408.6:c.8006G>A ENSP00000372900.3:p.Arg2669Gln
ENST00000503781.7:c.8153G>A ENSP00000421377.3:p.Arg2718Gln
ENST00000538948.5:c.2024G>A ENSP00000443129.1:p.Arg675Gln
ENST00000580640.5:c.8228G>A ENSP00000463094.1:p.Arg2743Gln
ENST00000582913.5:c.8359G>A ENSP00000462115.1:n.8359G>A
ENST00000582937.1:c.58+1057G>A ENSP00000462187.1:n.58+1057G>A
NM_022068.3:c.8153G>A NP_071351.2:p.Arg2718Gln
XM_011525723.1:c.8285G>A XP_011524025.1:p.Arg2762Gln
XM_011525724.1:c.8228G>A XP_011524026.1:p.Arg2743Gln
XM_011525725.1:c.8195G>A XP_011524027.1:p.Arg2732Gln
XM_011525726.1:c.8102G>A XP_011524028.1:p.Arg2701Gln
XM_011525723.3:c.8285G>A XP_011524025.1:p.Arg2762Gln
XM_011525724.3:c.8228G>A XP_011524026.1:p.Arg2743Gln
XM_011525725.3:c.8195G>A XP_011524027.1:p.Arg2732Gln
XM_011525726.3:c.8102G>A XP_011524028.1:p.Arg2701Gln
XM_017025918.2:c.8246G>A XP_016881407.1:p.Arg2749Gln
NM_001378183.1:c.8492G>A MANE Select NP_001365112.1:p.Arg2831Gln
NM_022068.4:c.8153G>A NP_071351.2:p.Arg2718Gln