Canonical Allele Identifier: CA311034329
Community Standard Title: NM_001386393.1(PANK2):c.651+62A>C
Gene: PANK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.3908340A>C , CM000682.2:g.3908340A>C GRCh38
NC_000020.10:g.3888987A>C , CM000682.1:g.3888987A>C GRCh37
NC_000020.9:g.3836987A>C NCBI36
NG_008131.3:g.24502A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001386393.1:c.651+62A>C MANE Select NP_001373322.1:n.651+62A>C
ENST00000610179.7:c.651+62A>C MANE Select ENSP00000477429.2:n.651+62A>C
NM_001324191.1:c.108+62A>C NP_001311120.1:n.108+62A>C
NM_001324191.2:c.108+62A>C NP_001311120.1:n.108+62A>C
NM_001324192.1:c.*47A>C NP_001311121.1:n.*47A>C
NM_001324193.1:c.-328+205A>C NP_001311122.1:n.-328+205A>C
NM_001324193.2:c.-328+205A>C NP_001311122.1:n.-328+205A>C
NM_024960.4:c.108+62A>C NP_079236.3:n.108+62A>C
NM_024960.5:c.108+62A>C NP_079236.3:n.108+62A>C
NM_024960.6:c.108+62A>C NP_079236.3:n.108+62A>C
NM_153638.2:c.981+62A>C NP_705902.2:n.981+62A>C
NM_153638.3:c.981+62A>C NP_705902.2:n.981+62A>C
NM_153638.4:c.981+62A>C NP_705902.2:n.981+62A>C
NM_153640.2:c.108+62A>C NP_705904.1:n.108+62A>C
NM_153640.3:c.108+62A>C NP_705904.1:n.108+62A>C
NM_153640.4:c.108+62A>C NP_705904.1:n.108+62A>C
NR_136715.1:n.1005+205A>C
NR_136715.2:n.552+205A>C
ENST00000316562.8:c.981+62A>C ENSP00000313377.4:n.981+62A>C
ENST00000316562.9:c.981+62A>C ENSP00000313377.4:n.981+62A>C
ENST00000336066.7:c.469+205A>C ENSP00000477229.1:n.469+205A>C
ENST00000336066.8:c.508+205A>C ENSP00000477229.2:n.508+205A>C
ENST00000471830.1:n.382+205A>C
ENST00000495692.5:c.-328+205A>C ENSP00000476745.1:n.-328+205A>C
ENST00000497424.5:c.108+62A>C ENSP00000417609.1:n.108+62A>C
ENST00000610179.5:c.612+62A>C ENSP00000477429.1:n.612+62A>C
ENST00000610179.6:c.651+62A>C ENSP00000477429.2:n.651+62A>C
ENST00000621507.1:c.108+62A>C ENSP00000481523.1:n.108+62A>C
ENST00000643504.2:c.*281+205A>C ENSP00000495157.2:n.*281+205A>C
ENST00000646394.1:c.478+62A>C
XM_005260835.2:c.366+62A>C XP_005260892.1:n.366+62A>C
XM_005260835.3:c.366+62A>C XP_005260892.1:n.366+62A>C
XM_005260836.3:c.108+62A>C XP_005260893.3:n.108+62A>C
XM_005260836.4:c.108+62A>C XP_005260893.3:n.108+62A>C
XM_006723631.1:c.108+62A>C XP_006723694.1:n.108+62A>C
XM_011529364.1:c.981+62A>C XP_011527666.1:n.981+62A>C
XM_011529364.3:c.981+62A>C XP_011527666.1:n.981+62A>C
XM_011529365.1:c.838+205A>C XP_011527667.1:n.838+205A>C
XM_011529365.2:c.838+205A>C XP_011527667.1:n.838+205A>C
XM_017028077.2:c.-328+205A>C XP_016883566.1:n.-328+205A>C
XM_017028078.2:c.-328+205A>C XP_016883567.1:n.-328+205A>C
XM_017028079.2:c.-328+205A>C XP_016883568.1:n.-328+205A>C
XM_024452002.1:c.-328+205A>C XP_024307770.1:n.-328+205A>C
XR_002958533.1:n.1204A>C