Canonical Allele Identifier: CA9750496

Gene: PANK2

Linked Data

• ClinVar Variation Id: 425264
• ClinVar RCV Id: RCV000488345 ; RCV001081909 ; RCV002282169
• dbSNP Id: rs148036492
• ExAC: 20:3869884 A / T
• gnomAD v2: 20-3869884-A-T
• gnomAD v3: 20-3889237-A-T
• gnomAD v4: 20-3889237-A-T
• MyVariant Identifiers: chr20:g.3869884A>T (hg19) ; chr20:g.3889237A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3889237A>T , CM000682.2:g.3889237A>T	GRCh38
NC_000020.10:g.3869884A>T , CM000682.1:g.3869884A>T	GRCh37
NC_000020.9:g.3817884A>T	NCBI36
NG_008131.3:g.5399A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316562.9:c.137A>T	ENSP00000313377.4:p.Asp46Val
ENST00000316562.8:c.137A>T	ENSP00000313377.4:p.Asp46Val
ENST00000495692.5:c.-538+221A>T	ENSP00000476745.1:n.-538+221A>T
ENST00000497424.5:c.-246+333A>T	ENSP00000417609.1:n.-246+333A>T
NM_024960.4:c.-246+333A>T	NP_079236.3:n.-246+333A>T
NM_153638.2:c.137A>T	NP_705902.2:p.Asp46Val
XM_005260836.3:c.-246+221A>T	XP_005260893.3:n.-246+221A>T
XM_011529364.1:c.137A>T	XP_011527666.1:p.Asp46Val
XM_011529365.1:c.137A>T	XP_011527667.1:p.Asp46Val
NM_001324191.1:c.-905A>T	NP_001311120.1:n.-905A>T
NM_001324192.1:c.137A>T	NP_001311121.1:p.Asp46Val
NM_024960.5:c.-246+333A>T	NP_079236.3:n.-246+333A>T
NM_153638.3:c.137A>T	NP_705902.2:p.Asp46Val
NR_136715.1:n.304A>T
XM_005260836.4:c.-246+221A>T	XP_005260893.3:n.-246+221A>T
XM_011529364.3:c.137A>T	XP_011527666.1:p.Asp46Val
XM_011529365.2:c.137A>T	XP_011527667.1:p.Asp46Val
XM_017028079.2:c.-538+221A>T	XP_016883568.1:n.-538+221A>T
XM_024452002.1:c.-538+333A>T	XP_024307770.1:n.-538+333A>T
XR_002958533.1:n.298A>T
NM_024960.6:c.-246+333A>T	NP_079236.3:n.-246+333A>T
NM_153638.4:c.137A>T	NP_705902.2:p.Asp46Val