Canonical Allele Identifier: CA509423173

Gene: PANK2

Linked Data

• gnomAD v4: 20-3912548-T-C
• MyVariant Identifiers: chr20:g.3893195T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3912548T>C , CM000682.2:g.3912548T>C	GRCh38
NC_000020.10:g.3893195T>C , CM000682.1:g.3893195T>C	GRCh37
NC_000020.9:g.3841195T>C	NCBI36
NG_008131.3:g.28710T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000610179.7:c.996T>C MANE Select	ENSP00000477429.2:p.Asp332=
ENST00000316562.9:c.1326T>C	ENSP00000313377.4:p.Asp442=
ENST00000336066.8:c.*337T>C	ENSP00000477229.2:n.*337T>C
ENST00000610179.6:c.996T>C	ENSP00000477429.2:p.Asp332=
ENST00000643504.2:c.*626T>C	ENSP00000495157.2:n.*626T>C
ENST00000646394.1:c.823T>C
ENST00000316562.8:c.1326T>C	ENSP00000313377.4:p.Asp442=
ENST00000336066.7:c.*337T>C	ENSP00000477229.1:n.*337T>C
ENST00000464452.1:n.561T>C
ENST00000495692.5:c.18T>C	ENSP00000476745.1:p.Asp6=
ENST00000497424.5:c.453T>C	ENSP00000417609.1:p.Asp151=
ENST00000610179.5:c.957T>C	ENSP00000477429.1:p.Asp319=
ENST00000621507.1:c.453T>C	ENSP00000481523.1:p.Asp151=
NM_024960.4:c.453T>C	NP_079236.3:p.Asp151=
NM_153638.2:c.1326T>C	NP_705902.2:p.Asp442=
NM_153640.2:c.453T>C	NP_705904.1:p.Asp151=
XM_005260835.2:c.711T>C	XP_005260892.1:p.Asp237=
XM_005260836.3:c.453T>C	XP_005260893.3:p.Asp151=
XM_006723631.1:c.453T>C	XP_006723694.1:p.Asp151=
XM_011529364.1:c.1235+1718T>C	XP_011527666.1:n.1235+1718T>C
NM_001324191.1:c.453T>C	NP_001311120.1:p.Asp151=
NM_001324193.1:c.18T>C	NP_001311122.1:p.Asp6=
NM_024960.5:c.453T>C	NP_079236.3:p.Asp151=
NM_153638.3:c.1326T>C	NP_705902.2:p.Asp442=
NM_153640.3:c.453T>C	NP_705904.1:p.Asp151=
NR_136715.1:n.1350T>C
XM_005260835.3:c.711T>C	XP_005260892.1:p.Asp237=
XM_005260836.4:c.453T>C	XP_005260893.3:p.Asp151=
XM_011529364.3:c.1235+1718T>C	XP_011527666.1:n.1235+1718T>C
XM_017028077.2:c.18T>C	XP_016883566.1:p.Asp6=
XM_017028078.2:c.18T>C	XP_016883567.1:p.Asp6=
XM_017028079.2:c.18T>C	XP_016883568.1:p.Asp6=
XM_024452002.1:c.18T>C	XP_024307770.1:p.Asp6=
XR_002958533.1:n.2114T>C
NM_001324191.2:c.453T>C	NP_001311120.1:p.Asp151=
NM_001324193.2:c.18T>C	NP_001311122.1:p.Asp6=
NM_024960.6:c.453T>C	NP_079236.3:p.Asp151=
NR_136715.2:n.897T>C
NM_001386393.1:c.996T>C MANE Select	NP_001373322.1:p.Asp332=
NM_153638.4:c.1326T>C	NP_705902.2:p.Asp442=
NM_153640.4:c.453T>C	NP_705904.1:p.Asp151=