Canonical Allele Identifier: CA224202
Community Standard Title: NC_000020.11:g.3889196C>T
Gene: PANK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3889196C>T , CM000682.2:g.3889196C>T GRCh38
NC_000020.10:g.3869843C>T , CM000682.1:g.3869843C>T GRCh37
NC_000020.9:g.3817843C>T NCBI36
NG_008131.3:g.5358C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001324191.1:c.-946C>T NP_001311120.1:n.-946C>T
NM_001324192.1:c.96C>T NP_001311121.1:p.Thr32=
NM_024960.4:c.-246+292C>T NP_079236.3:n.-246+292C>T
NM_024960.5:c.-246+292C>T NP_079236.3:n.-246+292C>T
NM_024960.6:c.-246+292C>T NP_079236.3:n.-246+292C>T
NM_153638.2:c.96C>T NP_705902.2:p.Thr32=
NM_153638.3:c.96C>T NP_705902.2:p.Thr32=
NM_153638.4:c.96C>T NP_705902.2:p.Thr32=
NR_136715.1:n.263C>T
ENST00000316562.8:c.96C>T ENSP00000313377.4:p.Thr32=
ENST00000316562.9:c.96C>T ENSP00000313377.4:p.Thr32=
ENST00000495692.5:c.-538+180C>T ENSP00000476745.1:n.-538+180C>T
ENST00000497424.5:c.-246+292C>T ENSP00000417609.1:n.-246+292C>T
XM_005260836.3:c.-246+180C>T XP_005260893.3:n.-246+180C>T
XM_005260836.4:c.-246+180C>T XP_005260893.3:n.-246+180C>T
XM_011529364.1:c.96C>T XP_011527666.1:p.Thr32=
XM_011529364.3:c.96C>T XP_011527666.1:p.Thr32=
XM_011529365.1:c.96C>T XP_011527667.1:p.Thr32=
XM_011529365.2:c.96C>T XP_011527667.1:p.Thr32=
XM_017028079.2:c.-538+180C>T XP_016883568.1:n.-538+180C>T
XM_024452002.1:c.-538+292C>T XP_024307770.1:n.-538+292C>T
XR_002958533.1:n.257C>T