Canonical Allele Identifier: CA2284409324
Community Standard Title: NM_001378183.1(PIEZO2):c.8492G= (p.Arg2831=)
Gene: PIEZO2 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_001378183.1:c.8492G= MANE Select NP_001365112.1:p.Arg2831=
ENST00000674853.1:c.8492G= MANE Select ENSP00000501957.1:p.Arg2831=
NM_022068.3:c.8153G= NP_071351.2:p.Arg2718=
NM_022068.4:c.8153G= NP_071351.2:p.Arg2718=
ENST00000302079.10:c.7964G= ENSP00000303316.6:p.Arg2655=
ENST00000383408.6:c.8006G= ENSP00000372900.3:p.Arg2669=
ENST00000383408.7:c.*1594G= ENSP00000372900.4:n.*1594G=
ENST00000503781.7:c.8153G= ENSP00000421377.3:p.Arg2718=
ENST00000538948.5:c.2024G= ENSP00000443129.1:p.Arg675=
ENST00000580640.5:c.8228G= ENSP00000463094.1:p.Arg2743=
ENST00000582913.5:c.8359G= ENSP00000462115.1:n.8359G=
ENST00000582937.1:c.58+1057G= ENSP00000462187.1:n.58+1057G=
ENST00000685517.1:n.3235G=
ENST00000691469.1:n.2390G=
ENST00000693743.1:c.1688G= ENSP00000510331.1:n.1688G=
XM_011525723.1:c.8285G= XP_011524025.1:p.Arg2762=
XM_011525723.3:c.8285G= XP_011524025.1:p.Arg2762=
XM_011525724.1:c.8228G= XP_011524026.1:p.Arg2743=
XM_011525724.3:c.8228G= XP_011524026.1:p.Arg2743=
XM_011525725.1:c.8195G= XP_011524027.1:p.Arg2732=
XM_011525725.3:c.8195G= XP_011524027.1:p.Arg2732=
XM_011525726.1:c.8102G= XP_011524028.1:p.Arg2701=
XM_011525726.3:c.8102G= XP_011524028.1:p.Arg2701=
XM_017025918.2:c.8246G= XP_016881407.1:p.Arg2749=