Canonical Allele Identifier: CA628186189

Gene: PIEZO2

Linked Data

• dbSNP Id: rs912318288
• gnomAD v2: 18-10705218-C-G
• gnomAD v3: 18-10705220-C-G
• gnomAD v4: 18-10705220-C-G
• MyVariant Identifiers: chr18:g.10705218C>G (hg19) ; chr18:g.10705220C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.10705220C>G , CM000680.2:g.10705220C>G	GRCh38
NC_000018.9:g.10705218C>G , CM000680.1:g.10705218C>G	GRCh37
NC_000018.8:g.10695218C>G	NCBI36
NG_034005.1:g.448543G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383408.7:c.5735+116G>C	ENSP00000372900.4:n.5735+116G>C
ENST00000674853.1:c.5999+116G>C MANE Select	ENSP00000501957.1:n.5999+116G>C
ENST00000302079.10:c.5660+116G>C	ENSP00000303316.6:n.5660+116G>C
ENST00000383408.6:c.5513+116G>C	ENSP00000372900.3:n.5513+116G>C
ENST00000503781.7:c.5660+116G>C	ENSP00000421377.3:n.5660+116G>C
ENST00000580640.5:c.5735+116G>C	ENSP00000463094.1:n.5735+116G>C
ENST00000582913.5:c.5866+116G>C	ENSP00000462115.1:n.5866+116G>C
NM_022068.3:c.5660+116G>C	NP_071351.2:n.5660+116G>C
XM_011525723.1:c.5792+116G>C	XP_011524025.1:n.5792+116G>C
XM_011525724.1:c.5735+116G>C	XP_011524026.1:n.5735+116G>C
XM_011525725.1:c.5702+116G>C	XP_011524027.1:n.5702+116G>C
XM_011525726.1:c.5792+116G>C	XP_011524028.1:n.5792+116G>C
XM_011525723.3:c.5792+116G>C	XP_011524025.1:n.5792+116G>C
XM_011525724.3:c.5735+116G>C	XP_011524026.1:n.5735+116G>C
XM_011525725.3:c.5702+116G>C	XP_011524027.1:n.5702+116G>C
XM_011525726.3:c.5792+116G>C	XP_011524028.1:n.5792+116G>C
XM_017025918.2:c.5753+116G>C	XP_016881407.1:n.5753+116G>C
XR_001753259.2:n.6789+116G>C
NM_001378183.1:c.5999+116G>C MANE Select	NP_001365112.1:n.5999+116G>C
NM_022068.4:c.5660+116G>C	NP_071351.2:n.5660+116G>C