Canonical Allele Identifier: CA10575487
Gene: PANK2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 4559
dbSNP Id: rs148987163

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3916926G>T , CM000682.2:g.3916926G>T GRCh38
NC_000020.10:g.3897573G>T , CM000682.1:g.3897573G>T GRCh37
NC_000020.9:g.3845573G>T NCBI36
NG_008131.3:g.33088G>T

Transcript Alleles

HGVS Amino-acid change
NM_024960.4:c.540-1G>T VV NP_079236.3:p.=
NM_153638.2:c.1413-1G>T VV NP_705902.2:p.=
NM_153640.2:c.540-1G>T VV NP_705904.1:p.=
XM_005260835.2:c.798-1G>T XP_005260892.1:p.=
XM_005260836.3:c.540-1G>T XP_005260893.3:p.=
XM_006723631.1:c.540-1G>T XP_006723694.1:p.=
XM_011529364.1:c.1236-1G>T XP_011527666.1:p.=
NM_001324191.1:c.540-1G>T VV NP_001311120.1:p.=
NM_001324193.1:c.105-1G>T VV NP_001311122.1:p.=
NM_024960.5:c.540-1G>T VV NP_079236.3:p.=
NM_153638.3:c.1413-1G>T VV NP_705902.2:p.=
NM_153640.3:c.540-1G>T VV NP_705904.1:p.=
NR_136715.1:n.1437-1G>T
XM_005260835.3:c.798-1G>T XP_005260892.1:p.=
XM_005260836.4:c.540-1G>T XP_005260893.3:p.=
XM_011529364.3:c.1236-1G>T XP_011527666.1:p.=
XM_017028077.2:c.105-1G>T XP_016883566.1:p.=
XM_017028078.2:c.105-1G>T XP_016883567.1:p.=
XM_017028079.2:c.105-1G>T XP_016883568.1:p.=
XM_024452002.1:c.105-1G>T XP_024307770.1:p.=
XR_002958533.1:n.2201-1G>T
ENST00000316562.8:c.1413-1G>T ENSP00000313377.4:p.=
ENST00000336066.7:c.*424-1G>T ENSP00000477229.1:p.=
ENST00000464452.1:n.648-1G>T
ENST00000495692.5:c.105-1G>T ENSP00000476745.1:p.=
ENST00000497424.5:c.540-1G>T ENSP00000417609.1:p.=
ENST00000610179.5:c.1044-1G>T ENSP00000477429.1:p.=
ENST00000621507.1:c.540-1G>T ENSP00000481523.1:p.=