Canonical Allele Identifier: CA408117955

Gene: PANK2

Linked Data

• gnomAD v4: 20-3912612-C-T
• MyVariant Identifiers: chr20:g.3893259C>T (hg19) ; chr20:g.3912612C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3912612C>T , CM000682.2:g.3912612C>T	GRCh38
NC_000020.10:g.3893259C>T , CM000682.1:g.3893259C>T	GRCh37
NC_000020.9:g.3841259C>T	NCBI36
NG_008131.3:g.28774C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610179.7:c.1060C>T MANE Select	ENSP00000477429.2:p.Pro354Ser
ENST00000316562.9:c.1390C>T	ENSP00000313377.4:p.Pro464Ser
ENST00000336066.8:c.*401C>T	ENSP00000477229.2:n.*401C>T
ENST00000610179.6:c.1060C>T	ENSP00000477429.2:p.Pro354Ser
ENST00000643504.2:c.*690C>T	ENSP00000495157.2:n.*690C>T
ENST00000646394.1:c.887C>T
ENST00000316562.8:c.1390C>T	ENSP00000313377.4:p.Pro464Ser
ENST00000336066.7:c.*401C>T	ENSP00000477229.1:n.*401C>T
ENST00000464452.1:n.625C>T
ENST00000495692.5:c.82C>T	ENSP00000476745.1:p.Pro28Ser
ENST00000497424.5:c.517C>T	ENSP00000417609.1:p.Pro173Ser
ENST00000610179.5:c.1021C>T	ENSP00000477429.1:p.Pro341Ser
ENST00000621507.1:c.517C>T	ENSP00000481523.1:p.Pro173Ser
NM_024960.4:c.517C>T	NP_079236.3:p.Pro173Ser
NM_153638.2:c.1390C>T	NP_705902.2:p.Pro464Ser
NM_153640.2:c.517C>T	NP_705904.1:p.Pro173Ser
XM_005260835.2:c.775C>T	XP_005260892.1:p.Pro259Ser
XM_005260836.3:c.517C>T	XP_005260893.3:p.Pro173Ser
XM_006723631.1:c.517C>T	XP_006723694.1:p.Pro173Ser
XM_011529364.1:c.1235+1782C>T	XP_011527666.1:n.1235+1782C>T
NM_001324191.1:c.517C>T	NP_001311120.1:p.Pro173Ser
NM_001324193.1:c.82C>T	NP_001311122.1:p.Pro28Ser
NM_024960.5:c.517C>T	NP_079236.3:p.Pro173Ser
NM_153638.3:c.1390C>T	NP_705902.2:p.Pro464Ser
NM_153640.3:c.517C>T	NP_705904.1:p.Pro173Ser
NR_136715.1:n.1414C>T
XM_005260835.3:c.775C>T	XP_005260892.1:p.Pro259Ser
XM_005260836.4:c.517C>T	XP_005260893.3:p.Pro173Ser
XM_011529364.3:c.1235+1782C>T	XP_011527666.1:n.1235+1782C>T
XM_017028077.2:c.82C>T	XP_016883566.1:p.Pro28Ser
XM_017028078.2:c.82C>T	XP_016883567.1:p.Pro28Ser
XM_017028079.2:c.82C>T	XP_016883568.1:p.Pro28Ser
XM_024452002.1:c.82C>T	XP_024307770.1:p.Pro28Ser
XR_002958533.1:n.2178C>T
NM_001324191.2:c.517C>T	NP_001311120.1:p.Pro173Ser
NM_001324193.2:c.82C>T	NP_001311122.1:p.Pro28Ser
NM_024960.6:c.517C>T	NP_079236.3:p.Pro173Ser
NR_136715.2:n.961C>T
NM_001386393.1:c.1060C>T MANE Select	NP_001373322.1:p.Pro354Ser
NM_153638.4:c.1390C>T	NP_705902.2:p.Pro464Ser
NM_153640.4:c.517C>T	NP_705904.1:p.Pro173Ser