Canonical Allele Identifier: CA9750540

Gene: PANK2

Linked Data

• ClinVar Variation Id: 1400398
• ClinVar RCV Id: RCV001911311 ; RCV003481178
• dbSNP Id: rs780551883
• ExAC: 20:3870057 G / A
• gnomAD v2: 20-3870057-G-A
• gnomAD v3: 20-3889410-G-A
• gnomAD v4: 20-3889410-G-A
• MyVariant Identifiers: chr20:g.3870057G>A (hg19) ; chr20:g.3889410G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3889410G>A , CM000682.2:g.3889410G>A	GRCh38
NC_000020.10:g.3870057G>A , CM000682.1:g.3870057G>A	GRCh37
NC_000020.9:g.3818057G>A	NCBI36
NG_008131.3:g.5572G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000610179.7:c.-21G>A MANE Select	ENSP00000477429.2:n.-21G>A
ENST00000316562.9:c.310G>A	ENSP00000313377.4:p.Glu104Lys
ENST00000336066.8:c.-21G>A	ENSP00000477229.2:n.-21G>A
ENST00000610179.6:c.-21G>A	ENSP00000477429.2:n.-21G>A
ENST00000643504.2:c.-21G>A	ENSP00000495157.2:n.-21G>A
ENST00000316562.8:c.310G>A	ENSP00000313377.4:p.Glu104Lys
ENST00000336066.7:c.-60G>A	ENSP00000477229.1:n.-60G>A
ENST00000495692.5:c.-538+394G>A	ENSP00000476745.1:n.-538+394G>A
ENST00000497424.5:c.-246+506G>A	ENSP00000417609.1:n.-246+506G>A
NM_024960.4:c.-246+506G>A	NP_079236.3:n.-246+506G>A
NM_153638.2:c.310G>A	NP_705902.2:p.Glu104Lys
XM_005260836.3:c.-246+394G>A	XP_005260893.3:n.-246+394G>A
XM_011529364.1:c.310G>A	XP_011527666.1:p.Glu104Lys
XM_011529365.1:c.310G>A	XP_011527667.1:p.Glu104Lys
NM_001324191.1:c.-732G>A	NP_001311120.1:n.-732G>A
NM_001324192.1:c.310G>A	NP_001311121.1:p.Glu104Lys
NM_024960.5:c.-246+506G>A	NP_079236.3:n.-246+506G>A
NM_153638.3:c.310G>A	NP_705902.2:p.Glu104Lys
NR_136715.1:n.477G>A
XM_005260836.4:c.-246+394G>A	XP_005260893.3:n.-246+394G>A
XM_011529364.3:c.310G>A	XP_011527666.1:p.Glu104Lys
XM_011529365.2:c.310G>A	XP_011527667.1:p.Glu104Lys
XM_017028079.2:c.-538+394G>A	XP_016883568.1:n.-538+394G>A
XM_024452002.1:c.-538+506G>A	XP_024307770.1:n.-538+506G>A
XR_002958533.1:n.471G>A
NM_001324191.2:c.-732G>A	NP_001311120.1:n.-732G>A
NM_024960.6:c.-246+506G>A	NP_079236.3:n.-246+506G>A
NR_136715.2:n.24G>A
NM_001386393.1:c.-21G>A MANE Select	NP_001373322.1:n.-21G>A
NM_153638.4:c.310G>A	NP_705902.2:p.Glu104Lys