Canonical Allele Identifier: CA401910204

Gene: PIEZO2

Linked Data

• dbSNP Id: rs1410565532
• gnomAD v2: 18-10705334-T-C
• gnomAD v3: 18-10705336-T-C
• gnomAD v4: 18-10705336-T-C
• MyVariant Identifiers: chr18:g.10705334T>C (hg19) ; chr18:g.10705336T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.10705336T>C , CM000680.2:g.10705336T>C	GRCh38
NC_000018.9:g.10705334T>C , CM000680.1:g.10705334T>C	GRCh37
NC_000018.8:g.10695334T>C	NCBI36
NG_034005.1:g.448427A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383408.7:c.5735A>G	ENSP00000372900.4:p.Lys1912Arg
ENST00000643712.1:c.743A>G
ENST00000674853.1:c.5999A>G MANE Select	ENSP00000501957.1:p.Lys2000Arg
ENST00000302079.10:c.5660A>G	ENSP00000303316.6:p.Lys1887Arg
ENST00000383408.6:c.5513A>G	ENSP00000372900.3:p.Lys1838Arg
ENST00000503781.7:c.5660A>G	ENSP00000421377.3:p.Lys1887Arg
ENST00000580640.5:c.5735A>G	ENSP00000463094.1:p.Lys1912Arg
ENST00000582913.5:c.5866A>G	ENSP00000462115.1:n.5866A>G
NM_022068.3:c.5660A>G	NP_071351.2:p.Lys1887Arg
XM_011525723.1:c.5792A>G	XP_011524025.1:p.Lys1931Arg
XM_011525724.1:c.5735A>G	XP_011524026.1:p.Lys1912Arg
XM_011525725.1:c.5702A>G	XP_011524027.1:p.Lys1901Arg
XM_011525726.1:c.5792A>G	XP_011524028.1:p.Lys1931Arg
XM_011525723.3:c.5792A>G	XP_011524025.1:p.Lys1931Arg
XM_011525724.3:c.5735A>G	XP_011524026.1:p.Lys1912Arg
XM_011525725.3:c.5702A>G	XP_011524027.1:p.Lys1901Arg
XM_011525726.3:c.5792A>G	XP_011524028.1:p.Lys1931Arg
XM_017025918.2:c.5753A>G	XP_016881407.1:p.Lys1918Arg
XR_001753259.2:n.6789A>G
NM_001378183.1:c.5999A>G MANE Select	NP_001365112.1:p.Lys2000Arg
NM_022068.4:c.5660A>G	NP_071351.2:p.Lys1887Arg