Canonical Allele Identifier: CA9750632
Community Standard Title: NM_001386393.1(PANK2):c.298+34C>T
Gene: PANK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3889762C>T , CM000682.2:g.3889762C>T GRCh38
NC_000020.10:g.3870409C>T , CM000682.1:g.3870409C>T GRCh37
NC_000020.9:g.3818409C>T NCBI36
NG_008131.3:g.5924C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001386393.1:c.298+34C>T MANE Select NP_001373322.1:n.298+34C>T
ENST00000610179.7:c.298+34C>T MANE Select ENSP00000477429.2:n.298+34C>T
NM_001324191.1:c.-414+34C>T NP_001311120.1:n.-414+34C>T
NM_001324191.2:c.-414+34C>T NP_001311120.1:n.-414+34C>T
NM_001324192.1:c.628+34C>T NP_001311121.1:n.628+34C>T
NM_024960.4:c.-246+858C>T NP_079236.3:n.-246+858C>T
NM_024960.5:c.-246+858C>T NP_079236.3:n.-246+858C>T
NM_024960.6:c.-246+858C>T NP_079236.3:n.-246+858C>T
NM_153638.2:c.628+34C>T NP_705902.2:n.628+34C>T
NM_153638.3:c.628+34C>T NP_705902.2:n.628+34C>T
NM_153638.4:c.628+34C>T NP_705902.2:n.628+34C>T
NR_136715.1:n.795+34C>T
NR_136715.2:n.342+34C>T
ENST00000316562.8:c.628+34C>T ENSP00000313377.4:n.628+34C>T
ENST00000316562.9:c.628+34C>T ENSP00000313377.4:n.628+34C>T
ENST00000336066.7:c.259+34C>T ENSP00000477229.1:n.259+34C>T
ENST00000336066.8:c.298+34C>T ENSP00000477229.2:n.298+34C>T
ENST00000495692.5:c.-538+746C>T ENSP00000476745.1:n.-538+746C>T
ENST00000497424.5:c.-246+858C>T ENSP00000417609.1:n.-246+858C>T
ENST00000610179.5:c.259+34C>T ENSP00000477429.1:n.259+34C>T
ENST00000610179.6:c.298+34C>T ENSP00000477429.2:n.298+34C>T
ENST00000643504.2:c.298+34C>T ENSP00000495157.2:n.298+34C>T
ENST00000646394.1:c.59+34C>T
XM_005260836.3:c.-246+746C>T XP_005260893.3:n.-246+746C>T
XM_005260836.4:c.-246+746C>T XP_005260893.3:n.-246+746C>T
XM_011529364.1:c.628+34C>T XP_011527666.1:n.628+34C>T
XM_011529364.3:c.628+34C>T XP_011527666.1:n.628+34C>T
XM_011529365.1:c.628+34C>T XP_011527667.1:n.628+34C>T
XM_011529365.2:c.628+34C>T XP_011527667.1:n.628+34C>T
XM_017028079.2:c.-538+746C>T XP_016883568.1:n.-538+746C>T
XM_024452002.1:c.-538+858C>T XP_024307770.1:n.-538+858C>T
XR_002958533.1:n.789+34C>T