Canonical Allele Identifier: CA350115836

Gene: PIKFYVE

Linked Data

• dbSNP Id: rs372551089
• gnomAD v2: 2-209191107-A-G
• gnomAD v4: 2-208326383-A-G
• MyVariant Identifiers: chr2:g.209191107A>G (hg19) ; chr2:g.208326383A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326383A>G , CM000664.2:g.208326383A>G	GRCh38
NC_000002.11:g.209191107A>G , CM000664.1:g.209191107A>G	GRCh37
NC_000002.10:g.208899352A>G	NCBI36
NG_021188.1:g.65117A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3572A>G MANE Select	ENSP00000264380.4:p.Asp1191Gly
ENST00000264380.8:c.3572A>G	ENSP00000264380.4:p.Asp1191Gly
ENST00000452564.1:c.3404A>G	ENSP00000405736.1:p.Asp1135Gly
NM_015040.3:c.3572A>G	NP_055855.2:p.Asp1191Gly
XM_011510778.1:c.3608A>G	XP_011509080.1:p.Asp1203Gly
XM_011510779.1:c.3608A>G	XP_011509081.1:p.Asp1203Gly
XM_011510780.1:c.3605A>G	XP_011509082.1:p.Asp1202Gly
XM_011510781.1:c.3590A>G	XP_011509083.1:p.Asp1197Gly
XM_011510782.1:c.3608A>G	XP_011509084.1:p.Asp1203Gly
XM_011510783.1:c.3440A>G	XP_011509085.1:p.Asp1147Gly
XM_011510784.1:c.3437A>G	XP_011509086.1:p.Asp1146Gly
XM_011510785.1:c.3422A>G	XP_011509087.1:p.Asp1141Gly
XM_011510786.1:c.3317A>G	XP_011509088.1:p.Asp1106Gly
XM_011510787.1:c.3314A>G	XP_011509089.1:p.Asp1105Gly
XM_011510788.1:c.3281A>G	XP_011509090.1:p.Asp1094Gly
XM_011510789.1:c.3131A>G	XP_011509091.1:p.Asp1044Gly
XM_011510790.1:c.2615A>G	XP_011509092.1:p.Asp872Gly
XM_011510791.1:c.2615A>G	XP_011509093.1:p.Asp872Gly
XM_011510792.1:c.3608A>G	XP_011509094.1:p.Asp1203Gly
XR_922888.1:n.3745A>G
XM_011510778.3:c.3608A>G	XP_011509080.1:p.Asp1203Gly
XM_011510779.2:c.3608A>G	XP_011509081.1:p.Asp1203Gly
XM_011510780.2:c.3605A>G	XP_011509082.1:p.Asp1202Gly
XM_011510781.3:c.3590A>G	XP_011509083.1:p.Asp1197Gly
XM_011510782.3:c.3608A>G	XP_011509084.1:p.Asp1203Gly
XM_011510783.3:c.3440A>G	XP_011509085.1:p.Asp1147Gly
XM_011510784.2:c.3437A>G	XP_011509086.1:p.Asp1146Gly
XM_011510785.3:c.3422A>G	XP_011509087.1:p.Asp1141Gly
XM_011510786.3:c.3317A>G	XP_011509088.1:p.Asp1106Gly
XM_011510789.2:c.3131A>G	XP_011509091.1:p.Asp1044Gly
XM_011510792.3:c.3608A>G	XP_011509094.1:p.Asp1203Gly
XM_017003568.1:c.3554A>G	XP_016859057.1:p.Asp1185Gly
XM_017003569.1:c.3386A>G	XP_016859058.1:p.Asp1129Gly
XM_017003570.1:c.3113A>G	XP_016859059.1:p.Asp1038Gly
XM_017003571.1:c.2963A>G	XP_016859060.1:p.Asp988Gly
XM_017003572.1:c.2615A>G	XP_016859061.1:p.Asp872Gly
XM_017003573.1:c.2615A>G	XP_016859062.1:p.Asp872Gly
XM_017003574.1:c.2615A>G	XP_016859063.1:p.Asp872Gly
NM_015040.4:c.3572A>G MANE Select	NP_055855.2:p.Asp1191Gly