Canonical Allele Identifier: CA10643832
Community Standard Title: NC_000020.11:g.3889154A>G
Gene: PANK2 HGNC NCBI
PANK2-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3889154A>G , CM000682.2:g.3889154A>G GRCh38
NC_000020.10:g.3869801A>G , CM000682.1:g.3869801A>G GRCh37
NC_000020.9:g.3817801A>G NCBI36
NG_008131.3:g.5316A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001324191.1:c.-988A>G (PANK2) NP_001311120.1:n.-988A>G
NM_001324192.1:c.54A>G (PANK2) NP_001311121.1:p.Ser18=
NM_024960.4:c.-246+250A>G (PANK2) NP_079236.3:n.-246+250A>G
NM_024960.5:c.-246+250A>G (PANK2) NP_079236.3:n.-246+250A>G
NM_024960.6:c.-246+250A>G (PANK2) NP_079236.3:n.-246+250A>G
NM_153638.2:c.54A>G (PANK2) NP_705902.2:p.Ser18=
NM_153638.3:c.54A>G (PANK2) NP_705902.2:p.Ser18=
NM_153638.4:c.54A>G (PANK2) NP_705902.2:p.Ser18=
NR_136715.1:n.221A>G (PANK2)
ENST00000316562.8:c.54A>G (PANK2) ENSP00000313377.4:p.Ser18=
ENST00000316562.9:c.54A>G (PANK2) ENSP00000313377.4:p.Ser18=
ENST00000495692.5:c.-538+138A>G (PANK2) ENSP00000476745.1:n.-538+138A>G
ENST00000497424.5:c.-246+250A>G (PANK2) ENSP00000417609.1:n.-246+250A>G
XM_005260836.3:c.-246+138A>G (PANK2) XP_005260893.3:n.-246+138A>G
XM_005260836.4:c.-246+138A>G (PANK2) XP_005260893.3:n.-246+138A>G
XM_011529364.1:c.54A>G (PANK2) XP_011527666.1:p.Ser18=
XM_011529364.3:c.54A>G (PANK2) XP_011527666.1:p.Ser18=
XM_011529365.1:c.54A>G (PANK2) XP_011527667.1:p.Ser18=
XM_011529365.2:c.54A>G (PANK2) XP_011527667.1:p.Ser18=
XM_017028079.2:c.-538+138A>G (PANK2) XP_016883568.1:n.-538+138A>G
XM_024452002.1:c.-538+250A>G (PANK2) XP_024307770.1:n.-538+250A>G
XR_001754478.2:n.32T>C (PANK2-AS1)
XR_002958533.1:n.215A>G (PANK2)