Canonical Allele Identifier: CA401923738
Gene: PIEZO2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.10762604T>G , CM000680.2:g.10762604T>G GRCh38
NC_000018.9:g.10762602T>G , CM000680.1:g.10762602T>G GRCh37
NC_000018.8:g.10752602T>G NCBI36
NG_034005.1:g.391159A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000383408.7:c.3145A>C ENSP00000372900.4:p.Ile1049Leu
ENST00000686869.1:n.3202A>C
ENST00000674853.1:c.3145A>C MANE Select ENSP00000501957.1:p.Ile1049Leu
ENST00000302079.10:c.3070A>C ENSP00000303316.6:p.Ile1024Leu
ENST00000383408.6:c.2923A>C ENSP00000372900.3:p.Ile975Leu
ENST00000503781.7:c.3070A>C ENSP00000421377.3:p.Ile1024Leu
ENST00000580640.5:c.3145A>C ENSP00000463094.1:p.Ile1049Leu
ENST00000582913.5:c.3112A>C ENSP00000462115.1:p.Ile1038Leu
NM_022068.3:c.3070A>C NP_071351.2:p.Ile1024Leu
XM_011525723.1:c.3202A>C XP_011524025.1:p.Ile1068Leu
XM_011525724.1:c.3145A>C XP_011524026.1:p.Ile1049Leu
XM_011525725.1:c.3112A>C XP_011524027.1:p.Ile1038Leu
XM_011525726.1:c.3202A>C XP_011524028.1:p.Ile1068Leu
XM_011525727.1:c.3202A>C XP_011524029.1:p.Ile1068Leu
XM_011525723.3:c.3202A>C XP_011524025.1:p.Ile1068Leu
XM_011525724.3:c.3145A>C XP_011524026.1:p.Ile1049Leu
XM_011525725.3:c.3112A>C XP_011524027.1:p.Ile1038Leu
XM_011525726.3:c.3202A>C XP_011524028.1:p.Ile1068Leu
XM_017025918.2:c.3163A>C XP_016881407.1:p.Ile1055Leu
XR_001753259.2:n.4199A>C
NM_001378183.1:c.3145A>C MANE Select NP_001365112.1:p.Ile1049Leu
NM_022068.4:c.3070A>C NP_071351.2:p.Ile1024Leu