Canonical Allele Identifier: CA9750770

Gene: PANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3910710G>A , CM000682.2:g.3910710G>A	GRCh38
NC_000020.10:g.3891357G>A , CM000682.1:g.3891357G>A	GRCh37
NC_000020.9:g.3839357G>A	NCBI36
NG_008131.3:g.26872G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001386393.1:c.785G>A MANE Select	NP_001373322.1:p.Cys262Tyr
ENST00000610179.7:c.785G>A MANE Select	ENSP00000477429.2:p.Cys262Tyr
NM_001324191.1:c.242G>A	NP_001311120.1:p.Cys81Tyr
NM_001324191.2:c.242G>A	NP_001311120.1:p.Cys81Tyr
NM_001324193.1:c.-194G>A	NP_001311122.1:n.-194G>A
NM_001324193.2:c.-194G>A	NP_001311122.1:n.-194G>A
NM_024960.4:c.242G>A	NP_079236.3:p.Cys81Tyr
NM_024960.5:c.242G>A	NP_079236.3:p.Cys81Tyr
NM_024960.6:c.242G>A	NP_079236.3:p.Cys81Tyr
NM_153638.2:c.1115G>A	NP_705902.2:p.Cys372Tyr
NM_153638.3:c.1115G>A	NP_705902.2:p.Cys372Tyr
NM_153638.4:c.1115G>A	NP_705902.2:p.Cys372Tyr
NM_153640.2:c.242G>A	NP_705904.1:p.Cys81Tyr
NM_153640.3:c.242G>A	NP_705904.1:p.Cys81Tyr
NM_153640.4:c.242G>A	NP_705904.1:p.Cys81Tyr
NR_136715.1:n.1139G>A
NR_136715.2:n.686G>A
ENST00000316562.8:c.1115G>A	ENSP00000313377.4:p.Cys372Tyr
ENST00000316562.9:c.1115G>A	ENSP00000313377.4:p.Cys372Tyr
ENST00000336066.7:c.*126G>A	ENSP00000477229.1:n.*126G>A
ENST00000336066.8:c.*126G>A	ENSP00000477229.2:n.*126G>A
ENST00000464452.1:n.350G>A
ENST00000471830.1:n.516G>A
ENST00000495692.5:c.-194G>A	ENSP00000476745.1:n.-194G>A
ENST00000497424.5:c.242G>A	ENSP00000417609.1:p.Cys81Tyr
ENST00000610179.5:c.746G>A	ENSP00000477429.1:p.Cys249Tyr
ENST00000610179.6:c.785G>A	ENSP00000477429.2:p.Cys262Tyr
ENST00000621507.1:c.242G>A	ENSP00000481523.1:p.Cys81Tyr
ENST00000643504.2:c.*415G>A	ENSP00000495157.2:n.*415G>A
ENST00000646394.1:c.612G>A
XM_005260835.2:c.500G>A	XP_005260892.1:p.Cys167Tyr
XM_005260835.3:c.500G>A	XP_005260892.1:p.Cys167Tyr
XM_005260836.3:c.242G>A	XP_005260893.3:p.Cys81Tyr
XM_005260836.4:c.242G>A	XP_005260893.3:p.Cys81Tyr
XM_006723631.1:c.242G>A	XP_006723694.1:p.Cys81Tyr
XM_011529364.1:c.1115G>A	XP_011527666.1:p.Cys372Tyr
XM_011529364.3:c.1115G>A	XP_011527666.1:p.Cys372Tyr
XM_017028077.2:c.-194G>A	XP_016883566.1:n.-194G>A
XM_017028078.2:c.-194G>A	XP_016883567.1:n.-194G>A
XM_017028079.2:c.-194G>A	XP_016883568.1:n.-194G>A
XM_024452002.1:c.-194G>A	XP_024307770.1:n.-194G>A
XR_002958533.1:n.1903G>A