Canonical Allele Identifier: CA8892738
Community Standard Title: NM_001378183.1(PIEZO2):c.1379-47T>C
Gene: PIEZO2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.10797569A>G , CM000680.2:g.10797569A>G GRCh38
NC_000018.9:g.10797567A>G , CM000680.1:g.10797567A>G GRCh37
NC_000018.8:g.10787567A>G NCBI36
NG_034005.1:g.356194T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001378183.1:c.1379-47T>C MANE Select NP_001365112.1:n.1379-47T>C
ENST00000674853.1:c.1379-47T>C MANE Select ENSP00000501957.1:n.1379-47T>C
NM_022068.3:c.1379-47T>C NP_071351.2:n.1379-47T>C
NM_022068.4:c.1379-47T>C NP_071351.2:n.1379-47T>C
ENST00000302079.10:c.1379-47T>C ENSP00000303316.6:n.1379-47T>C
ENST00000383408.6:c.1226-47T>C ENSP00000372900.3:n.1226-47T>C
ENST00000383408.7:c.1379-47T>C ENSP00000372900.4:n.1379-47T>C
ENST00000503781.7:c.1379-47T>C ENSP00000421377.3:n.1379-47T>C
ENST00000579112.1:c.507-47T>C
ENST00000580640.5:c.1379-47T>C ENSP00000463094.1:n.1379-47T>C
ENST00000582913.5:c.1379-47T>C ENSP00000462115.1:n.1379-47T>C
ENST00000686869.1:n.1436-47T>C
XM_011525723.1:c.1379-47T>C XP_011524025.1:n.1379-47T>C
XM_011525723.3:c.1379-47T>C XP_011524025.1:n.1379-47T>C
XM_011525724.1:c.1379-47T>C XP_011524026.1:n.1379-47T>C
XM_011525724.3:c.1379-47T>C XP_011524026.1:n.1379-47T>C
XM_011525725.1:c.1379-47T>C XP_011524027.1:n.1379-47T>C
XM_011525725.3:c.1379-47T>C XP_011524027.1:n.1379-47T>C
XM_011525726.1:c.1379-47T>C XP_011524028.1:n.1379-47T>C
XM_011525726.3:c.1379-47T>C XP_011524028.1:n.1379-47T>C
XM_011525727.1:c.1379-47T>C XP_011524029.1:n.1379-47T>C
XM_017025918.2:c.1340-47T>C XP_016881407.1:n.1340-47T>C
XR_001753259.2:n.2376-47T>C