Canonical Allele Identifier: CA2080036

Gene: PIKFYVE

Linked Data

• ClinVar Variation Id: 2387562
• ClinVar RCV Id: RCV002698522
• dbSNP Id: rs765025146
• ExAC: 2:209190972 A / G
• gnomAD v2: 2-209190972-A-G
• gnomAD v3: 2-208326248-A-G
• gnomAD v4: 2-208326248-A-G
• COSMIC: COSM4583131
• MyVariant Identifiers: chr2:g.209190972A>G (hg19) ; chr2:g.208326248A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326248A>G , CM000664.2:g.208326248A>G	GRCh38
NC_000002.11:g.209190972A>G , CM000664.1:g.209190972A>G	GRCh37
NC_000002.10:g.208899217A>G	NCBI36
NG_021188.1:g.64982A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3437A>G MANE Select	ENSP00000264380.4:p.Gln1146Arg
ENST00000264380.8:c.3437A>G	ENSP00000264380.4:p.Gln1146Arg
ENST00000452564.1:c.3269A>G	ENSP00000405736.1:p.Gln1090Arg
NM_015040.3:c.3437A>G	NP_055855.2:p.Gln1146Arg
XM_011510778.1:c.3473A>G	XP_011509080.1:p.Gln1158Arg
XM_011510779.1:c.3473A>G	XP_011509081.1:p.Gln1158Arg
XM_011510780.1:c.3470A>G	XP_011509082.1:p.Gln1157Arg
XM_011510781.1:c.3455A>G	XP_011509083.1:p.Gln1152Arg
XM_011510782.1:c.3473A>G	XP_011509084.1:p.Gln1158Arg
XM_011510783.1:c.3305A>G	XP_011509085.1:p.Gln1102Arg
XM_011510784.1:c.3302A>G	XP_011509086.1:p.Gln1101Arg
XM_011510785.1:c.3287A>G	XP_011509087.1:p.Gln1096Arg
XM_011510786.1:c.3182A>G	XP_011509088.1:p.Gln1061Arg
XM_011510787.1:c.3179A>G	XP_011509089.1:p.Gln1060Arg
XM_011510788.1:c.3146A>G	XP_011509090.1:p.Gln1049Arg
XM_011510789.1:c.2996A>G	XP_011509091.1:p.Gln999Arg
XM_011510790.1:c.2480A>G	XP_011509092.1:p.Gln827Arg
XM_011510791.1:c.2480A>G	XP_011509093.1:p.Gln827Arg
XM_011510792.1:c.3473A>G	XP_011509094.1:p.Gln1158Arg
XR_922888.1:n.3610A>G
XM_011510778.3:c.3473A>G	XP_011509080.1:p.Gln1158Arg
XM_011510779.2:c.3473A>G	XP_011509081.1:p.Gln1158Arg
XM_011510780.2:c.3470A>G	XP_011509082.1:p.Gln1157Arg
XM_011510781.3:c.3455A>G	XP_011509083.1:p.Gln1152Arg
XM_011510782.3:c.3473A>G	XP_011509084.1:p.Gln1158Arg
XM_011510783.3:c.3305A>G	XP_011509085.1:p.Gln1102Arg
XM_011510784.2:c.3302A>G	XP_011509086.1:p.Gln1101Arg
XM_011510785.3:c.3287A>G	XP_011509087.1:p.Gln1096Arg
XM_011510786.3:c.3182A>G	XP_011509088.1:p.Gln1061Arg
XM_011510789.2:c.2996A>G	XP_011509091.1:p.Gln999Arg
XM_011510792.3:c.3473A>G	XP_011509094.1:p.Gln1158Arg
XM_017003568.1:c.3419A>G	XP_016859057.1:p.Gln1140Arg
XM_017003569.1:c.3251A>G	XP_016859058.1:p.Gln1084Arg
XM_017003570.1:c.2978A>G	XP_016859059.1:p.Gln993Arg
XM_017003571.1:c.2828A>G	XP_016859060.1:p.Gln943Arg
XM_017003572.1:c.2480A>G	XP_016859061.1:p.Gln827Arg
XM_017003573.1:c.2480A>G	XP_016859062.1:p.Gln827Arg
XM_017003574.1:c.2480A>G	XP_016859063.1:p.Gln827Arg
NM_015040.4:c.3437A>G MANE Select	NP_055855.2:p.Gln1146Arg