Canonical Allele Identifier: CA350115855

Gene: PIKFYVE

Linked Data

• gnomAD v4: 2-208326391-A-G
• MyVariant Identifiers: chr2:g.209191115A>G (hg19) ; chr2:g.208326391A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208326391A>G , CM000664.2:g.208326391A>G	GRCh38
NC_000002.11:g.209191115A>G , CM000664.1:g.209191115A>G	GRCh37
NC_000002.10:g.208899360A>G	NCBI36
NG_021188.1:g.65125A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264380.9:c.3580A>G MANE Select	ENSP00000264380.4:p.Arg1194Gly
ENST00000264380.8:c.3580A>G	ENSP00000264380.4:p.Arg1194Gly
ENST00000452564.1:c.3412A>G	ENSP00000405736.1:p.Arg1138Gly
NM_015040.3:c.3580A>G	NP_055855.2:p.Arg1194Gly
XM_011510778.1:c.3616A>G	XP_011509080.1:p.Arg1206Gly
XM_011510779.1:c.3616A>G	XP_011509081.1:p.Arg1206Gly
XM_011510780.1:c.3613A>G	XP_011509082.1:p.Arg1205Gly
XM_011510781.1:c.3598A>G	XP_011509083.1:p.Arg1200Gly
XM_011510782.1:c.3616A>G	XP_011509084.1:p.Arg1206Gly
XM_011510783.1:c.3448A>G	XP_011509085.1:p.Arg1150Gly
XM_011510784.1:c.3445A>G	XP_011509086.1:p.Arg1149Gly
XM_011510785.1:c.3430A>G	XP_011509087.1:p.Arg1144Gly
XM_011510786.1:c.3325A>G	XP_011509088.1:p.Arg1109Gly
XM_011510787.1:c.3322A>G	XP_011509089.1:p.Arg1108Gly
XM_011510788.1:c.3289A>G	XP_011509090.1:p.Arg1097Gly
XM_011510789.1:c.3139A>G	XP_011509091.1:p.Arg1047Gly
XM_011510790.1:c.2623A>G	XP_011509092.1:p.Arg875Gly
XM_011510791.1:c.2623A>G	XP_011509093.1:p.Arg875Gly
XM_011510792.1:c.3616A>G	XP_011509094.1:p.Arg1206Gly
XR_922888.1:n.3753A>G
XM_011510778.3:c.3616A>G	XP_011509080.1:p.Arg1206Gly
XM_011510779.2:c.3616A>G	XP_011509081.1:p.Arg1206Gly
XM_011510780.2:c.3613A>G	XP_011509082.1:p.Arg1205Gly
XM_011510781.3:c.3598A>G	XP_011509083.1:p.Arg1200Gly
XM_011510782.3:c.3616A>G	XP_011509084.1:p.Arg1206Gly
XM_011510783.3:c.3448A>G	XP_011509085.1:p.Arg1150Gly
XM_011510784.2:c.3445A>G	XP_011509086.1:p.Arg1149Gly
XM_011510785.3:c.3430A>G	XP_011509087.1:p.Arg1144Gly
XM_011510786.3:c.3325A>G	XP_011509088.1:p.Arg1109Gly
XM_011510789.2:c.3139A>G	XP_011509091.1:p.Arg1047Gly
XM_011510792.3:c.3616A>G	XP_011509094.1:p.Arg1206Gly
XM_017003568.1:c.3562A>G	XP_016859057.1:p.Arg1188Gly
XM_017003569.1:c.3394A>G	XP_016859058.1:p.Arg1132Gly
XM_017003570.1:c.3121A>G	XP_016859059.1:p.Arg1041Gly
XM_017003571.1:c.2971A>G	XP_016859060.1:p.Arg991Gly
XM_017003572.1:c.2623A>G	XP_016859061.1:p.Arg875Gly
XM_017003573.1:c.2623A>G	XP_016859062.1:p.Arg875Gly
XM_017003574.1:c.2623A>G	XP_016859063.1:p.Arg875Gly
NM_015040.4:c.3580A>G MANE Select	NP_055855.2:p.Arg1194Gly