Canonical Allele Identifier: CA8892593

Gene: PIEZO2

Linked Data

• ClinVar Variation Id: 261504
• ClinVar RCV Id: RCV000250705 ; RCV001610727 ; RCV001788135 ; RCV001788136 ; RCV001788137 ; RCV001788138
• dbSNP Id: rs7227167
• ExAC: 18:10763007 T / C
• gnomAD v2: 18-10763007-T-C
• gnomAD v3: 18-10763009-T-C
• gnomAD v4: 18-10763009-T-C
• MyVariant Identifiers: chr18:g.10763007T>C (hg19) ; chr18:g.10763009T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.10763009T>C , CM000680.2:g.10763009T>C	GRCh38
NC_000018.9:g.10763007T>C , CM000680.1:g.10763007T>C	GRCh37
NC_000018.8:g.10753007T>C	NCBI36
NG_034005.1:g.390754A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383408.7:c.3036A>G	ENSP00000372900.4:p.Thr1012=
ENST00000686869.1:n.3093A>G
ENST00000674853.1:c.3036A>G MANE Select	ENSP00000501957.1:p.Thr1012=
ENST00000302079.10:c.2961A>G	ENSP00000303316.6:p.Thr987=
ENST00000383408.6:c.2814A>G	ENSP00000372900.3:p.Thr938=
ENST00000503781.7:c.2961A>G	ENSP00000421377.3:p.Thr987=
ENST00000580640.5:c.3036A>G	ENSP00000463094.1:p.Thr1012=
ENST00000582913.5:c.3003A>G	ENSP00000462115.1:p.Thr1001=
NM_022068.3:c.2961A>G	NP_071351.2:p.Thr987=
XM_011525723.1:c.3093A>G	XP_011524025.1:p.Thr1031=
XM_011525724.1:c.3036A>G	XP_011524026.1:p.Thr1012=
XM_011525725.1:c.3003A>G	XP_011524027.1:p.Thr1001=
XM_011525726.1:c.3093A>G	XP_011524028.1:p.Thr1031=
XM_011525727.1:c.3093A>G	XP_011524029.1:p.Thr1031=
XM_011525723.3:c.3093A>G	XP_011524025.1:p.Thr1031=
XM_011525724.3:c.3036A>G	XP_011524026.1:p.Thr1012=
XM_011525725.3:c.3003A>G	XP_011524027.1:p.Thr1001=
XM_011525726.3:c.3093A>G	XP_011524028.1:p.Thr1031=
XM_017025918.2:c.3054A>G	XP_016881407.1:p.Thr1018=
XR_001753259.2:n.4090A>G
NM_001378183.1:c.3036A>G MANE Select	NP_001365112.1:p.Thr1012=
NM_022068.4:c.2961A>G	NP_071351.2:p.Thr987=