Canonical Allele Identifier: CA408140876

Gene: PANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3889497A>G , CM000682.2:g.3889497A>G	GRCh38
NC_000020.10:g.3870144A>G , CM000682.1:g.3870144A>G	GRCh37
NC_000020.9:g.3818144A>G	NCBI36
NG_008131.3:g.5659A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001386393.1:c.67A>G MANE Select	NP_001373322.1:p.Met23Val
ENST00000610179.7:c.67A>G MANE Select	ENSP00000477429.2:p.Met23Val
NM_001324191.1:c.-645A>G	NP_001311120.1:n.-645A>G
NM_001324191.2:c.-645A>G	NP_001311120.1:n.-645A>G
NM_001324192.1:c.397A>G	NP_001311121.1:p.Met133Val
NM_024960.4:c.-246+593A>G	NP_079236.3:n.-246+593A>G
NM_024960.5:c.-246+593A>G	NP_079236.3:n.-246+593A>G
NM_024960.6:c.-246+593A>G	NP_079236.3:n.-246+593A>G
NM_153638.2:c.397A>G	NP_705902.2:p.Met133Val
NM_153638.3:c.397A>G	NP_705902.2:p.Met133Val
NM_153638.4:c.397A>G	NP_705902.2:p.Met133Val
NR_136715.1:n.564A>G
NR_136715.2:n.111A>G
ENST00000316562.8:c.397A>G	ENSP00000313377.4:p.Met133Val
ENST00000316562.9:c.397A>G	ENSP00000313377.4:p.Met133Val
ENST00000336066.7:c.28A>G	ENSP00000477229.1:p.Met10Val
ENST00000336066.8:c.67A>G	ENSP00000477229.2:p.Met23Val
ENST00000495692.5:c.-538+481A>G	ENSP00000476745.1:n.-538+481A>G
ENST00000497424.5:c.-246+593A>G	ENSP00000417609.1:n.-246+593A>G
ENST00000610179.5:c.28A>G	ENSP00000477429.1:p.Met10Val
ENST00000610179.6:c.67A>G	ENSP00000477429.2:p.Met23Val
ENST00000643504.2:c.67A>G	ENSP00000495157.2:p.Met23Val
XM_005260836.3:c.-246+481A>G	XP_005260893.3:n.-246+481A>G
XM_005260836.4:c.-246+481A>G	XP_005260893.3:n.-246+481A>G
XM_011529364.1:c.397A>G	XP_011527666.1:p.Met133Val
XM_011529364.3:c.397A>G	XP_011527666.1:p.Met133Val
XM_011529365.1:c.397A>G	XP_011527667.1:p.Met133Val
XM_011529365.2:c.397A>G	XP_011527667.1:p.Met133Val
XM_017028079.2:c.-538+481A>G	XP_016883568.1:n.-538+481A>G
XM_024452002.1:c.-538+593A>G	XP_024307770.1:n.-538+593A>G
XR_002958533.1:n.558A>G