Canonical Allele Identifier: CA401920186
Gene: PIEZO2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.10784791T>G , CM000680.2:g.10784791T>G GRCh38
NC_000018.9:g.10784789T>G , CM000680.1:g.10784789T>G GRCh37
NC_000018.8:g.10774789T>G NCBI36
NG_034005.1:g.368972A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000383408.7:c.2485A>C ENSP00000372900.4:p.Ile829Leu
ENST00000686869.1:n.2542A>C
ENST00000674853.1:c.2485A>C MANE Select ENSP00000501957.1:p.Ile829Leu
ENST00000302079.10:c.2485A>C ENSP00000303316.6:p.Ile829Leu
ENST00000383408.6:c.2332A>C ENSP00000372900.3:p.Ile778Leu
ENST00000503781.7:c.2485A>C ENSP00000421377.3:p.Ile829Leu
ENST00000580640.5:c.2485A>C ENSP00000463094.1:p.Ile829Leu
ENST00000582913.5:c.2485A>C ENSP00000462115.1:p.Ile829Leu
ENST00000583325.1:c.472A>C ENSP00000462560.1:p.Ile158Leu
NM_022068.3:c.2485A>C NP_071351.2:p.Ile829Leu
XM_011525723.1:c.2485A>C XP_011524025.1:p.Ile829Leu
XM_011525724.1:c.2485A>C XP_011524026.1:p.Ile829Leu
XM_011525725.1:c.2485A>C XP_011524027.1:p.Ile829Leu
XM_011525726.1:c.2485A>C XP_011524028.1:p.Ile829Leu
XM_011525727.1:c.2485A>C XP_011524029.1:p.Ile829Leu
XM_011525723.3:c.2485A>C XP_011524025.1:p.Ile829Leu
XM_011525724.3:c.2485A>C XP_011524026.1:p.Ile829Leu
XM_011525725.3:c.2485A>C XP_011524027.1:p.Ile829Leu
XM_011525726.3:c.2485A>C XP_011524028.1:p.Ile829Leu
XM_017025918.2:c.2446A>C XP_016881407.1:p.Ile816Leu
XR_001753259.2:n.3482A>C
NM_001378183.1:c.2485A>C MANE Select NP_001365112.1:p.Ile829Leu
NM_022068.4:c.2485A>C NP_071351.2:p.Ile829Leu