Canonical Allele Identifier: CA509423252

Gene: PANK2

Linked Data

• MyVariant Identifiers: chr20:g.3893273G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3912626G>C , CM000682.2:g.3912626G>C	GRCh38
NC_000020.10:g.3893273G>C , CM000682.1:g.3893273G>C	GRCh37
NC_000020.9:g.3841273G>C	NCBI36
NG_008131.3:g.28788G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610179.7:c.1074G>C MANE Select	ENSP00000477429.2:p.Val358=
ENST00000316562.9:c.1404G>C	ENSP00000313377.4:p.Val468=
ENST00000336066.8:c.*415G>C	ENSP00000477229.2:n.*415G>C
ENST00000610179.6:c.1074G>C	ENSP00000477429.2:p.Val358=
ENST00000643504.2:c.*704G>C	ENSP00000495157.2:n.*704G>C
ENST00000646394.1:c.901G>C
ENST00000316562.8:c.1404G>C	ENSP00000313377.4:p.Val468=
ENST00000336066.7:c.*415G>C	ENSP00000477229.1:n.*415G>C
ENST00000464452.1:n.639G>C
ENST00000495692.5:c.96G>C	ENSP00000476745.1:p.Val32=
ENST00000497424.5:c.531G>C	ENSP00000417609.1:p.Val177=
ENST00000610179.5:c.1035G>C	ENSP00000477429.1:p.Val345=
ENST00000621507.1:c.531G>C	ENSP00000481523.1:p.Val177=
NM_024960.4:c.531G>C	NP_079236.3:p.Val177=
NM_153638.2:c.1404G>C	NP_705902.2:p.Val468=
NM_153640.2:c.531G>C	NP_705904.1:p.Val177=
XM_005260835.2:c.789G>C	XP_005260892.1:p.Val263=
XM_005260836.3:c.531G>C	XP_005260893.3:p.Val177=
XM_006723631.1:c.531G>C	XP_006723694.1:p.Val177=
XM_011529364.1:c.1235+1796G>C	XP_011527666.1:n.1235+1796G>C
NM_001324191.1:c.531G>C	NP_001311120.1:p.Val177=
NM_001324193.1:c.96G>C	NP_001311122.1:p.Val32=
NM_024960.5:c.531G>C	NP_079236.3:p.Val177=
NM_153638.3:c.1404G>C	NP_705902.2:p.Val468=
NM_153640.3:c.531G>C	NP_705904.1:p.Val177=
NR_136715.1:n.1428G>C
XM_005260835.3:c.789G>C	XP_005260892.1:p.Val263=
XM_005260836.4:c.531G>C	XP_005260893.3:p.Val177=
XM_011529364.3:c.1235+1796G>C	XP_011527666.1:n.1235+1796G>C
XM_017028077.2:c.96G>C	XP_016883566.1:p.Val32=
XM_017028078.2:c.96G>C	XP_016883567.1:p.Val32=
XM_017028079.2:c.96G>C	XP_016883568.1:p.Val32=
XM_024452002.1:c.96G>C	XP_024307770.1:p.Val32=
XR_002958533.1:n.2192G>C
NM_001324191.2:c.531G>C	NP_001311120.1:p.Val177=
NM_001324193.2:c.96G>C	NP_001311122.1:p.Val32=
NM_024960.6:c.531G>C	NP_079236.3:p.Val177=
NR_136715.2:n.975G>C
NM_001386393.1:c.1074G>C MANE Select	NP_001373322.1:p.Val358=
NM_153638.4:c.1404G>C	NP_705902.2:p.Val468=
NM_153640.4:c.531G>C	NP_705904.1:p.Val177=