Canonical Allele Identifier: CA296032323

Gene: PIEZO2

Linked Data

• ClinVar Variation Id: 2585600
• ClinVar RCV Id: RCV003338217
• dbSNP Id: rs752023399
• gnomAD v2: 18-10762554-C-A
• gnomAD v3: 18-10762556-C-A
• gnomAD v4: 18-10762556-C-A
• MyVariant Identifiers: chr18:g.10762554C>A (hg19) ; chr18:g.10762556C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.10762556C>A , CM000680.2:g.10762556C>A	GRCh38
NC_000018.9:g.10762554C>A , CM000680.1:g.10762554C>A	GRCh37
NC_000018.8:g.10752554C>A	NCBI36
NG_034005.1:g.391207G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383408.7:c.3193G>T	ENSP00000372900.4:p.Asp1065Tyr
ENST00000686869.1:n.3250G>T
ENST00000674853.1:c.3193G>T MANE Select	ENSP00000501957.1:p.Asp1065Tyr
ENST00000302079.10:c.3118G>T	ENSP00000303316.6:p.Asp1040Tyr
ENST00000383408.6:c.2971G>T	ENSP00000372900.3:p.Asp991Tyr
ENST00000503781.7:c.3118G>T	ENSP00000421377.3:p.Asp1040Tyr
ENST00000580640.5:c.3193G>T	ENSP00000463094.1:p.Asp1065Tyr
ENST00000582913.5:c.3160G>T	ENSP00000462115.1:p.Asp1054Tyr
NM_022068.3:c.3118G>T	NP_071351.2:p.Asp1040Tyr
XM_011525723.1:c.3250G>T	XP_011524025.1:p.Asp1084Tyr
XM_011525724.1:c.3193G>T	XP_011524026.1:p.Asp1065Tyr
XM_011525725.1:c.3160G>T	XP_011524027.1:p.Asp1054Tyr
XM_011525726.1:c.3250G>T	XP_011524028.1:p.Asp1084Tyr
XM_011525727.1:c.3250G>T	XP_011524029.1:p.Asp1084Tyr
XM_011525723.3:c.3250G>T	XP_011524025.1:p.Asp1084Tyr
XM_011525724.3:c.3193G>T	XP_011524026.1:p.Asp1065Tyr
XM_011525725.3:c.3160G>T	XP_011524027.1:p.Asp1054Tyr
XM_011525726.3:c.3250G>T	XP_011524028.1:p.Asp1084Tyr
XM_017025918.2:c.3211G>T	XP_016881407.1:p.Asp1071Tyr
XR_001753259.2:n.4247G>T
NM_001378183.1:c.3193G>T MANE Select	NP_001365112.1:p.Asp1065Tyr
NM_022068.4:c.3118G>T	NP_071351.2:p.Asp1040Tyr