Canonical Allele Identifier: CA2080033

Gene: PIKFYVE

Linked Data

• dbSNP Id: rs368966596
• ExAC: 2:209190966 A / G
• gnomAD v2: 2-209190966-A-G
• gnomAD v3: 2-208326242-A-G
• gnomAD v4: 2-208326242-A-G
• MyVariant Identifiers: chr2:g.209190966A>G (hg19) ; chr2:g.208326242A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326242A>G , CM000664.2:g.208326242A>G	GRCh38
NC_000002.11:g.209190966A>G , CM000664.1:g.209190966A>G	GRCh37
NC_000002.10:g.208899211A>G	NCBI36
NG_021188.1:g.64976A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3431A>G MANE Select	ENSP00000264380.4:p.Asp1144Gly
ENST00000264380.8:c.3431A>G	ENSP00000264380.4:p.Asp1144Gly
ENST00000452564.1:c.3263A>G	ENSP00000405736.1:p.Asp1088Gly
NM_015040.3:c.3431A>G	NP_055855.2:p.Asp1144Gly
XM_011510778.1:c.3467A>G	XP_011509080.1:p.Asp1156Gly
XM_011510779.1:c.3467A>G	XP_011509081.1:p.Asp1156Gly
XM_011510780.1:c.3464A>G	XP_011509082.1:p.Asp1155Gly
XM_011510781.1:c.3449A>G	XP_011509083.1:p.Asp1150Gly
XM_011510782.1:c.3467A>G	XP_011509084.1:p.Asp1156Gly
XM_011510783.1:c.3299A>G	XP_011509085.1:p.Asp1100Gly
XM_011510784.1:c.3296A>G	XP_011509086.1:p.Asp1099Gly
XM_011510785.1:c.3281A>G	XP_011509087.1:p.Asp1094Gly
XM_011510786.1:c.3176A>G	XP_011509088.1:p.Asp1059Gly
XM_011510787.1:c.3173A>G	XP_011509089.1:p.Asp1058Gly
XM_011510788.1:c.3140A>G	XP_011509090.1:p.Asp1047Gly
XM_011510789.1:c.2990A>G	XP_011509091.1:p.Asp997Gly
XM_011510790.1:c.2474A>G	XP_011509092.1:p.Asp825Gly
XM_011510791.1:c.2474A>G	XP_011509093.1:p.Asp825Gly
XM_011510792.1:c.3467A>G	XP_011509094.1:p.Asp1156Gly
XR_922888.1:n.3604A>G
XM_011510778.3:c.3467A>G	XP_011509080.1:p.Asp1156Gly
XM_011510779.2:c.3467A>G	XP_011509081.1:p.Asp1156Gly
XM_011510780.2:c.3464A>G	XP_011509082.1:p.Asp1155Gly
XM_011510781.3:c.3449A>G	XP_011509083.1:p.Asp1150Gly
XM_011510782.3:c.3467A>G	XP_011509084.1:p.Asp1156Gly
XM_011510783.3:c.3299A>G	XP_011509085.1:p.Asp1100Gly
XM_011510784.2:c.3296A>G	XP_011509086.1:p.Asp1099Gly
XM_011510785.3:c.3281A>G	XP_011509087.1:p.Asp1094Gly
XM_011510786.3:c.3176A>G	XP_011509088.1:p.Asp1059Gly
XM_011510789.2:c.2990A>G	XP_011509091.1:p.Asp997Gly
XM_011510792.3:c.3467A>G	XP_011509094.1:p.Asp1156Gly
XM_017003568.1:c.3413A>G	XP_016859057.1:p.Asp1138Gly
XM_017003569.1:c.3245A>G	XP_016859058.1:p.Asp1082Gly
XM_017003570.1:c.2972A>G	XP_016859059.1:p.Asp991Gly
XM_017003571.1:c.2822A>G	XP_016859060.1:p.Asp941Gly
XM_017003572.1:c.2474A>G	XP_016859061.1:p.Asp825Gly
XM_017003573.1:c.2474A>G	XP_016859062.1:p.Asp825Gly
XM_017003574.1:c.2474A>G	XP_016859063.1:p.Asp825Gly
NM_015040.4:c.3431A>G MANE Select	NP_055855.2:p.Asp1144Gly