Canonical Allele Identifier: CA401910247
Gene: PIEZO2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.10705355T>G , CM000680.2:g.10705355T>G GRCh38
NC_000018.9:g.10705353T>G , CM000680.1:g.10705353T>G GRCh37
NC_000018.8:g.10695353T>G NCBI36
NG_034005.1:g.448408A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000383408.7:c.5716A>C ENSP00000372900.4:p.Ser1906Arg
ENST00000643712.1:c.724A>C ENSP00000493635.1:p.Ser242Arg
ENST00000674853.1:c.5980A>C MANE Select ENSP00000501957.1:p.Ser1994Arg
ENST00000302079.10:c.5641A>C ENSP00000303316.6:p.Ser1881Arg
ENST00000383408.6:c.5494A>C ENSP00000372900.3:p.Ser1832Arg
ENST00000503781.7:c.5641A>C ENSP00000421377.3:p.Ser1881Arg
ENST00000580640.5:c.5716A>C ENSP00000463094.1:p.Ser1906Arg
ENST00000582913.5:c.5847A>C ENSP00000462115.1:n.5847A>C
NM_022068.3:c.5641A>C NP_071351.2:p.Ser1881Arg
XM_011525723.1:c.5773A>C XP_011524025.1:p.Ser1925Arg
XM_011525724.1:c.5716A>C XP_011524026.1:p.Ser1906Arg
XM_011525725.1:c.5683A>C XP_011524027.1:p.Ser1895Arg
XM_011525726.1:c.5773A>C XP_011524028.1:p.Ser1925Arg
XM_011525723.3:c.5773A>C XP_011524025.1:p.Ser1925Arg
XM_011525724.3:c.5716A>C XP_011524026.1:p.Ser1906Arg
XM_011525725.3:c.5683A>C XP_011524027.1:p.Ser1895Arg
XM_011525726.3:c.5773A>C XP_011524028.1:p.Ser1925Arg
XM_017025918.2:c.5734A>C XP_016881407.1:p.Ser1912Arg
XR_001753259.2:n.6770A>C
NM_001378183.1:c.5980A>C MANE Select NP_001365112.1:p.Ser1994Arg
NM_022068.4:c.5641A>C NP_071351.2:p.Ser1881Arg