Canonical Allele Identifier: CA401910205

Gene: PIEZO2

Linked Data

• gnomAD v4: 18-10705336-T-G
• MyVariant Identifiers: chr18:g.10705334T>G (hg19) ; chr18:g.10705336T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383408.7:c.5735A>C	ENSP00000372900.4:p.Lys1912Thr
ENST00000643712.1:c.743A>C
ENST00000674853.1:c.5999A>C MANE Select	ENSP00000501957.1:p.Lys2000Thr
ENST00000302079.10:c.5660A>C	ENSP00000303316.6:p.Lys1887Thr
ENST00000383408.6:c.5513A>C	ENSP00000372900.3:p.Lys1838Thr
ENST00000503781.7:c.5660A>C	ENSP00000421377.3:p.Lys1887Thr
ENST00000580640.5:c.5735A>C	ENSP00000463094.1:p.Lys1912Thr
ENST00000582913.5:c.5866A>C	ENSP00000462115.1:n.5866A>C
NM_022068.3:c.5660A>C	NP_071351.2:p.Lys1887Thr
XM_011525723.1:c.5792A>C	XP_011524025.1:p.Lys1931Thr
XM_011525724.1:c.5735A>C	XP_011524026.1:p.Lys1912Thr
XM_011525725.1:c.5702A>C	XP_011524027.1:p.Lys1901Thr
XM_011525726.1:c.5792A>C	XP_011524028.1:p.Lys1931Thr
XM_011525723.3:c.5792A>C	XP_011524025.1:p.Lys1931Thr
XM_011525724.3:c.5735A>C	XP_011524026.1:p.Lys1912Thr
XM_011525725.3:c.5702A>C	XP_011524027.1:p.Lys1901Thr
XM_011525726.3:c.5792A>C	XP_011524028.1:p.Lys1931Thr
XM_017025918.2:c.5753A>C	XP_016881407.1:p.Lys1918Thr
XR_001753259.2:n.6789A>C
NM_001378183.1:c.5999A>C MANE Select	NP_001365112.1:p.Lys2000Thr
NM_022068.4:c.5660A>C	NP_071351.2:p.Lys1887Thr