Canonical Allele Identifier: CA401923882

Gene: PIEZO2

Linked Data

• dbSNP Id: rs1218767117
• gnomAD v2: 18-10762921-A-G
• gnomAD v3: 18-10762923-A-G
• gnomAD v4: 18-10762923-A-G
• MyVariant Identifiers: chr18:g.10762921A>G (hg19) ; chr18:g.10762923A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.10762923A>G , CM000680.2:g.10762923A>G	GRCh38
NC_000018.9:g.10762921A>G , CM000680.1:g.10762921A>G	GRCh37
NC_000018.8:g.10752921A>G	NCBI36
NG_034005.1:g.390840T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383408.7:c.3122T>C	ENSP00000372900.4:p.Leu1041Ser
ENST00000686869.1:n.3179T>C
ENST00000674853.1:c.3122T>C MANE Select	ENSP00000501957.1:p.Leu1041Ser
ENST00000302079.10:c.3047T>C	ENSP00000303316.6:p.Leu1016Ser
ENST00000383408.6:c.2900T>C	ENSP00000372900.3:p.Leu967Ser
ENST00000503781.7:c.3047T>C	ENSP00000421377.3:p.Leu1016Ser
ENST00000580640.5:c.3122T>C	ENSP00000463094.1:p.Leu1041Ser
ENST00000582913.5:c.3089T>C	ENSP00000462115.1:p.Leu1030Ser
NM_022068.3:c.3047T>C	NP_071351.2:p.Leu1016Ser
XM_011525723.1:c.3179T>C	XP_011524025.1:p.Leu1060Ser
XM_011525724.1:c.3122T>C	XP_011524026.1:p.Leu1041Ser
XM_011525725.1:c.3089T>C	XP_011524027.1:p.Leu1030Ser
XM_011525726.1:c.3179T>C	XP_011524028.1:p.Leu1060Ser
XM_011525727.1:c.3179T>C	XP_011524029.1:p.Leu1060Ser
XM_011525723.3:c.3179T>C	XP_011524025.1:p.Leu1060Ser
XM_011525724.3:c.3122T>C	XP_011524026.1:p.Leu1041Ser
XM_011525725.3:c.3089T>C	XP_011524027.1:p.Leu1030Ser
XM_011525726.3:c.3179T>C	XP_011524028.1:p.Leu1060Ser
XM_017025918.2:c.3140T>C	XP_016881407.1:p.Leu1047Ser
XR_001753259.2:n.4176T>C
NM_001378183.1:c.3122T>C MANE Select	NP_001365112.1:p.Leu1041Ser
NM_022068.4:c.3047T>C	NP_071351.2:p.Leu1016Ser