Canonical Allele Identifier: CA401923502

Gene: PIEZO2

Linked Data

• dbSNP Id: rs1232600322
• gnomAD v4: 18-10762501-C-T
• MyVariant Identifiers: chr18:g.10762499C>T (hg19) ; chr18:g.10762501C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.10762501C>T , CM000680.2:g.10762501C>T	GRCh38
NC_000018.9:g.10762499C>T , CM000680.1:g.10762499C>T	GRCh37
NC_000018.8:g.10752499C>T	NCBI36
NG_034005.1:g.391262G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383408.7:c.3248G>A	ENSP00000372900.4:p.Arg1083Lys
ENST00000686869.1:n.3305G>A
ENST00000674853.1:c.3248G>A MANE Select	ENSP00000501957.1:p.Arg1083Lys
ENST00000302079.10:c.3173G>A	ENSP00000303316.6:p.Arg1058Lys
ENST00000383408.6:c.3026G>A	ENSP00000372900.3:p.Arg1009Lys
ENST00000503781.7:c.3173G>A	ENSP00000421377.3:p.Arg1058Lys
ENST00000580640.5:c.3248G>A	ENSP00000463094.1:p.Arg1083Lys
ENST00000582913.5:c.3215G>A	ENSP00000462115.1:p.Arg1072Lys
NM_022068.3:c.3173G>A	NP_071351.2:p.Arg1058Lys
XM_011525723.1:c.3305G>A	XP_011524025.1:p.Arg1102Lys
XM_011525724.1:c.3248G>A	XP_011524026.1:p.Arg1083Lys
XM_011525725.1:c.3215G>A	XP_011524027.1:p.Arg1072Lys
XM_011525726.1:c.3305G>A	XP_011524028.1:p.Arg1102Lys
XM_011525727.1:c.3305G>A	XP_011524029.1:p.Arg1102Lys
XM_011525723.3:c.3305G>A	XP_011524025.1:p.Arg1102Lys
XM_011525724.3:c.3248G>A	XP_011524026.1:p.Arg1083Lys
XM_011525725.3:c.3215G>A	XP_011524027.1:p.Arg1072Lys
XM_011525726.3:c.3305G>A	XP_011524028.1:p.Arg1102Lys
XM_017025918.2:c.3266G>A	XP_016881407.1:p.Arg1089Lys
XR_001753259.2:n.4302G>A
NM_001378183.1:c.3248G>A MANE Select	NP_001365112.1:p.Arg1083Lys
NM_022068.4:c.3173G>A	NP_071351.2:p.Arg1058Lys