Canonical Allele Identifier: CA9750627
Gene: PANK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3889758C>G , CM000682.2:g.3889758C>G GRCh38
NC_000020.10:g.3870405C>G , CM000682.1:g.3870405C>G GRCh37
NC_000020.9:g.3818405C>G NCBI36
NG_008131.3:g.5920C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000610179.7:c.298+30C>G MANE Select ENSP00000477429.2:n.298+30C>G
ENST00000316562.9:c.628+30C>G ENSP00000313377.4:n.628+30C>G
ENST00000336066.8:c.298+30C>G ENSP00000477229.2:n.298+30C>G
ENST00000610179.6:c.298+30C>G ENSP00000477429.2:n.298+30C>G
ENST00000643504.2:c.298+30C>G ENSP00000495157.2:n.298+30C>G
ENST00000646394.1:c.59+30C>G
ENST00000316562.8:c.628+30C>G ENSP00000313377.4:n.628+30C>G
ENST00000336066.7:c.259+30C>G ENSP00000477229.1:n.259+30C>G
ENST00000495692.5:c.-538+742C>G ENSP00000476745.1:n.-538+742C>G
ENST00000497424.5:c.-246+854C>G ENSP00000417609.1:n.-246+854C>G
ENST00000610179.5:c.259+30C>G ENSP00000477429.1:n.259+30C>G
NM_024960.4:c.-246+854C>G NP_079236.3:n.-246+854C>G
NM_153638.2:c.628+30C>G NP_705902.2:n.628+30C>G
XM_005260836.3:c.-246+742C>G XP_005260893.3:n.-246+742C>G
XM_011529364.1:c.628+30C>G XP_011527666.1:n.628+30C>G
XM_011529365.1:c.628+30C>G XP_011527667.1:n.628+30C>G
NM_001324191.1:c.-414+30C>G NP_001311120.1:n.-414+30C>G
NM_001324192.1:c.628+30C>G NP_001311121.1:n.628+30C>G
NM_024960.5:c.-246+854C>G NP_079236.3:n.-246+854C>G
NM_153638.3:c.628+30C>G NP_705902.2:n.628+30C>G
NR_136715.1:n.795+30C>G
XM_005260836.4:c.-246+742C>G XP_005260893.3:n.-246+742C>G
XM_011529364.3:c.628+30C>G XP_011527666.1:n.628+30C>G
XM_011529365.2:c.628+30C>G XP_011527667.1:n.628+30C>G
XM_017028079.2:c.-538+742C>G XP_016883568.1:n.-538+742C>G
XM_024452002.1:c.-538+854C>G XP_024307770.1:n.-538+854C>G
XR_002958533.1:n.789+30C>G
NM_001324191.2:c.-414+30C>G NP_001311120.1:n.-414+30C>G
NM_024960.6:c.-246+854C>G NP_079236.3:n.-246+854C>G
NR_136715.2:n.342+30C>G
NM_001386393.1:c.298+30C>G MANE Select NP_001373322.1:n.298+30C>G
NM_153638.4:c.628+30C>G NP_705902.2:n.628+30C>G