Canonical Allele Identifier: CA408141894

Gene: PANK2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3889633C>T , CM000682.2:g.3889633C>T	GRCh38
NC_000020.10:g.3870280C>T , CM000682.1:g.3870280C>T	GRCh37
NC_000020.9:g.3818280C>T	NCBI36
NG_008131.3:g.5795C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610179.7:c.203C>T MANE Select	ENSP00000477429.2:p.Ser68Leu
ENST00000316562.9:c.533C>T	ENSP00000313377.4:p.Ser178Leu
ENST00000336066.8:c.203C>T	ENSP00000477229.2:p.Ser68Leu
ENST00000610179.6:c.203C>T	ENSP00000477429.2:p.Ser68Leu
ENST00000643504.2:c.203C>T	ENSP00000495157.2:p.Ser68Leu
ENST00000316562.8:c.533C>T	ENSP00000313377.4:p.Ser178Leu
ENST00000336066.7:c.164C>T	ENSP00000477229.1:p.Ser55Leu
ENST00000495692.5:c.-538+617C>T	ENSP00000476745.1:n.-538+617C>T
ENST00000497424.5:c.-246+729C>T	ENSP00000417609.1:n.-246+729C>T
ENST00000610179.5:c.164C>T	ENSP00000477429.1:p.Ser55Leu
NM_024960.4:c.-246+729C>T	NP_079236.3:n.-246+729C>T
NM_153638.2:c.533C>T	NP_705902.2:p.Ser178Leu
XM_005260836.3:c.-246+617C>T	XP_005260893.3:n.-246+617C>T
XM_011529364.1:c.533C>T	XP_011527666.1:p.Ser178Leu
XM_011529365.1:c.533C>T	XP_011527667.1:p.Ser178Leu
NM_001324191.1:c.-509C>T	NP_001311120.1:n.-509C>T
NM_001324192.1:c.533C>T	NP_001311121.1:p.Ser178Leu
NM_024960.5:c.-246+729C>T	NP_079236.3:n.-246+729C>T
NM_153638.3:c.533C>T	NP_705902.2:p.Ser178Leu
NR_136715.1:n.700C>T
XM_005260836.4:c.-246+617C>T	XP_005260893.3:n.-246+617C>T
XM_011529364.3:c.533C>T	XP_011527666.1:p.Ser178Leu
XM_011529365.2:c.533C>T	XP_011527667.1:p.Ser178Leu
XM_017028079.2:c.-538+617C>T	XP_016883568.1:n.-538+617C>T
XM_024452002.1:c.-538+729C>T	XP_024307770.1:n.-538+729C>T
XR_002958533.1:n.694C>T
NM_001324191.2:c.-509C>T	NP_001311120.1:n.-509C>T
NM_024960.6:c.-246+729C>T	NP_079236.3:n.-246+729C>T
NR_136715.2:n.247C>T
NM_001386393.1:c.203C>T MANE Select	NP_001373322.1:p.Ser68Leu
NM_153638.4:c.533C>T	NP_705902.2:p.Ser178Leu