Canonical Allele Identifier: CA408114320
Community Standard Title: NM_001386393.1(PANK2):c.652-2A>G
Gene: PANK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3910575A>G , CM000682.2:g.3910575A>G GRCh38
NC_000020.10:g.3891222A>G , CM000682.1:g.3891222A>G GRCh37
NC_000020.9:g.3839222A>G NCBI36
NG_008131.3:g.26737A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001386393.1:c.652-2A>G MANE Select NP_001373322.1:n.652-2A>G
ENST00000610179.7:c.652-2A>G MANE Select ENSP00000477429.2:n.652-2A>G
NM_001324191.1:c.109-2A>G NP_001311120.1:n.109-2A>G
NM_001324191.2:c.109-2A>G NP_001311120.1:n.109-2A>G
NM_001324193.1:c.-327-2A>G NP_001311122.1:n.-327-2A>G
NM_001324193.2:c.-327-2A>G NP_001311122.1:n.-327-2A>G
NM_024960.4:c.109-2A>G NP_079236.3:n.109-2A>G
NM_024960.5:c.109-2A>G NP_079236.3:n.109-2A>G
NM_024960.6:c.109-2A>G NP_079236.3:n.109-2A>G
NM_153638.2:c.982-2A>G NP_705902.2:n.982-2A>G
NM_153638.3:c.982-2A>G NP_705902.2:n.982-2A>G
NM_153638.4:c.982-2A>G NP_705902.2:n.982-2A>G
NM_153640.2:c.109-2A>G NP_705904.1:n.109-2A>G
NM_153640.3:c.109-2A>G NP_705904.1:n.109-2A>G
NM_153640.4:c.109-2A>G NP_705904.1:n.109-2A>G
NR_136715.1:n.1006-2A>G
NR_136715.2:n.553-2A>G
ENST00000316562.8:c.982-2A>G ENSP00000313377.4:n.982-2A>G
ENST00000316562.9:c.982-2A>G ENSP00000313377.4:n.982-2A>G
ENST00000336066.7:c.470-2A>G ENSP00000477229.1:n.470-2A>G
ENST00000336066.8:c.509-2A>G ENSP00000477229.2:n.509-2A>G
ENST00000464452.1:n.217-2A>G
ENST00000471830.1:n.383-2A>G
ENST00000495692.5:c.-327-2A>G ENSP00000476745.1:n.-327-2A>G
ENST00000497424.5:c.109-2A>G ENSP00000417609.1:n.109-2A>G
ENST00000610179.5:c.613-2A>G ENSP00000477429.1:n.613-2A>G
ENST00000610179.6:c.652-2A>G ENSP00000477429.2:n.652-2A>G
ENST00000621507.1:c.109-2A>G ENSP00000481523.1:n.109-2A>G
ENST00000643504.2:c.*282-2A>G ENSP00000495157.2:n.*282-2A>G
ENST00000646394.1:c.479-2A>G
XM_005260835.2:c.367-2A>G XP_005260892.1:n.367-2A>G
XM_005260835.3:c.367-2A>G XP_005260892.1:n.367-2A>G
XM_005260836.3:c.109-2A>G XP_005260893.3:n.109-2A>G
XM_005260836.4:c.109-2A>G XP_005260893.3:n.109-2A>G
XM_006723631.1:c.109-2A>G XP_006723694.1:n.109-2A>G
XM_011529364.1:c.982-2A>G XP_011527666.1:n.982-2A>G
XM_011529364.3:c.982-2A>G XP_011527666.1:n.982-2A>G
XM_017028077.2:c.-327-2A>G XP_016883566.1:n.-327-2A>G
XM_017028078.2:c.-327-2A>G XP_016883567.1:n.-327-2A>G
XM_017028079.2:c.-327-2A>G XP_016883568.1:n.-327-2A>G
XM_024452002.1:c.-327-2A>G XP_024307770.1:n.-327-2A>G
XR_002958533.1:n.1770-2A>G