Canonical Allele Identifier: CA9750451

Gene: PANK2 PANK2-AS1

Linked Data

• ClinVar Variation Id: 287783
• ClinVar RCV Id: RCV000365190 ; RCV000365814 ; RCV000675586
• dbSNP Id: rs71647826
• ExAC: 20:3869737 G / A
• gnomAD v2: 20-3869737-G-A
• gnomAD v3: 20-3889090-G-A
• gnomAD v4: 20-3889090-G-A
• MyVariant Identifiers: chr20:g.3869737G>A (hg19) ; chr20:g.3889090G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3889090G>A , CM000682.2:g.3889090G>A	GRCh38
NC_000020.10:g.3869737G>A , CM000682.1:g.3869737G>A	GRCh37
NC_000020.9:g.3817737G>A	NCBI36
NG_008131.3:g.5252G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316562.9:c.-11G>A (PANK2)	ENSP00000313377.4:n.-11G>A
ENST00000495692.5:c.-538+74G>A (PANK2)	ENSP00000476745.1:n.-538+74G>A
ENST00000497424.5:c.-246+186G>A (PANK2)	ENSP00000417609.1:n.-246+186G>A
NM_024960.4:c.-246+186G>A (PANK2)	NP_079236.3:n.-246+186G>A
XM_005260836.3:c.-246+74G>A (PANK2)	XP_005260893.3:n.-246+74G>A
XM_011529364.1:c.-11G>A (PANK2)	XP_011527666.1:n.-11G>A
XM_011529365.1:c.-11G>A (PANK2)	XP_011527667.1:n.-11G>A
NM_001324191.1:c.-1052G>A (PANK2)	NP_001311120.1:n.-1052G>A
NM_001324192.1:c.-11G>A (PANK2)	NP_001311121.1:n.-11G>A
NM_024960.5:c.-246+186G>A (PANK2)	NP_079236.3:n.-246+186G>A
NM_153638.3:c.-11G>A (PANK2)	NP_705902.2:n.-11G>A
NR_136715.1:n.157G>A (PANK2)
XM_005260836.4:c.-246+74G>A (PANK2)	XP_005260893.3:n.-246+74G>A
XM_011529364.3:c.-11G>A (PANK2)	XP_011527666.1:n.-11G>A
XM_011529365.2:c.-11G>A (PANK2)	XP_011527667.1:n.-11G>A
XM_017028079.2:c.-538+74G>A (PANK2)	XP_016883568.1:n.-538+74G>A
XM_024452002.1:c.-538+186G>A (PANK2)	XP_024307770.1:n.-538+186G>A
XR_001754478.2:n.96C>T (PANK2-AS1)
XR_002958533.1:n.151G>A (PANK2)
NM_024960.6:c.-246+186G>A (PANK2)	NP_079236.3:n.-246+186G>A
NM_153638.4:c.-11G>A (PANK2)	NP_705902.2:n.-11G>A