Canonical Allele Identifier: CA9750469

Gene: PANK2 PANK2-AS1

Linked Data

• ClinVar Variation Id: 2141110
• ClinVar RCV Id: RCV003056792
• dbSNP Id: rs573337848
• ExAC: 20:3869805 T / C
• gnomAD v2: 20-3869805-T-C
• gnomAD v4: 20-3889158-T-C
• MyVariant Identifiers: chr20:g.3869805T>C (hg19) ; chr20:g.3889158T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3889158T>C , CM000682.2:g.3889158T>C	GRCh38
NC_000020.10:g.3869805T>C , CM000682.1:g.3869805T>C	GRCh37
NC_000020.9:g.3817805T>C	NCBI36
NG_008131.3:g.5320T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316562.9:c.58T>C (PANK2)	ENSP00000313377.4:p.Ser20Pro
ENST00000316562.8:c.58T>C (PANK2)	ENSP00000313377.4:p.Ser20Pro
ENST00000495692.5:c.-538+142T>C (PANK2)	ENSP00000476745.1:n.-538+142T>C
ENST00000497424.5:c.-246+254T>C (PANK2)	ENSP00000417609.1:n.-246+254T>C
NM_024960.4:c.-246+254T>C (PANK2)	NP_079236.3:n.-246+254T>C
NM_153638.2:c.58T>C (PANK2)	NP_705902.2:p.Ser20Pro
XM_005260836.3:c.-246+142T>C (PANK2)	XP_005260893.3:n.-246+142T>C
XM_011529364.1:c.58T>C (PANK2)	XP_011527666.1:p.Ser20Pro
XM_011529365.1:c.58T>C (PANK2)	XP_011527667.1:p.Ser20Pro
NM_001324191.1:c.-984T>C (PANK2)	NP_001311120.1:n.-984T>C
NM_001324192.1:c.58T>C (PANK2)	NP_001311121.1:p.Ser20Pro
NM_024960.5:c.-246+254T>C (PANK2)	NP_079236.3:n.-246+254T>C
NM_153638.3:c.58T>C (PANK2)	NP_705902.2:p.Ser20Pro
NR_136715.1:n.225T>C (PANK2)
XM_005260836.4:c.-246+142T>C (PANK2)	XP_005260893.3:n.-246+142T>C
XM_011529364.3:c.58T>C (PANK2)	XP_011527666.1:p.Ser20Pro
XM_011529365.2:c.58T>C (PANK2)	XP_011527667.1:p.Ser20Pro
XM_017028079.2:c.-538+142T>C (PANK2)	XP_016883568.1:n.-538+142T>C
XM_024452002.1:c.-538+254T>C (PANK2)	XP_024307770.1:n.-538+254T>C
XR_001754478.2:n.28A>G (PANK2-AS1)
XR_002958533.1:n.219T>C (PANK2)
NM_024960.6:c.-246+254T>C (PANK2)	NP_079236.3:n.-246+254T>C
NM_153638.4:c.58T>C (PANK2)	NP_705902.2:p.Ser20Pro