Canonical Allele Identifier: CA9750620

Gene: PANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3889743G>C , CM000682.2:g.3889743G>C	GRCh38
NC_000020.10:g.3870390G>C , CM000682.1:g.3870390G>C	GRCh37
NC_000020.9:g.3818390G>C	NCBI36
NG_008131.3:g.5905G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001386393.1:c.298+15G>C MANE Select	NP_001373322.1:n.298+15G>C
ENST00000610179.7:c.298+15G>C MANE Select	ENSP00000477429.2:n.298+15G>C
NM_001324191.1:c.-414+15G>C	NP_001311120.1:n.-414+15G>C
NM_001324191.2:c.-414+15G>C	NP_001311120.1:n.-414+15G>C
NM_001324192.1:c.628+15G>C	NP_001311121.1:n.628+15G>C
NM_024960.4:c.-246+839G>C	NP_079236.3:n.-246+839G>C
NM_024960.5:c.-246+839G>C	NP_079236.3:n.-246+839G>C
NM_024960.6:c.-246+839G>C	NP_079236.3:n.-246+839G>C
NM_153638.2:c.628+15G>C	NP_705902.2:n.628+15G>C
NM_153638.3:c.628+15G>C	NP_705902.2:n.628+15G>C
NM_153638.4:c.628+15G>C	NP_705902.2:n.628+15G>C
NR_136715.1:n.795+15G>C
NR_136715.2:n.342+15G>C
ENST00000316562.8:c.628+15G>C	ENSP00000313377.4:n.628+15G>C
ENST00000316562.9:c.628+15G>C	ENSP00000313377.4:n.628+15G>C
ENST00000336066.7:c.259+15G>C	ENSP00000477229.1:n.259+15G>C
ENST00000336066.8:c.298+15G>C	ENSP00000477229.2:n.298+15G>C
ENST00000495692.5:c.-538+727G>C	ENSP00000476745.1:n.-538+727G>C
ENST00000497424.5:c.-246+839G>C	ENSP00000417609.1:n.-246+839G>C
ENST00000610179.5:c.259+15G>C	ENSP00000477429.1:n.259+15G>C
ENST00000610179.6:c.298+15G>C	ENSP00000477429.2:n.298+15G>C
ENST00000643504.2:c.298+15G>C	ENSP00000495157.2:n.298+15G>C
ENST00000646394.1:c.59+15G>C
XM_005260836.3:c.-246+727G>C	XP_005260893.3:n.-246+727G>C
XM_005260836.4:c.-246+727G>C	XP_005260893.3:n.-246+727G>C
XM_011529364.1:c.628+15G>C	XP_011527666.1:n.628+15G>C
XM_011529364.3:c.628+15G>C	XP_011527666.1:n.628+15G>C
XM_011529365.1:c.628+15G>C	XP_011527667.1:n.628+15G>C
XM_011529365.2:c.628+15G>C	XP_011527667.1:n.628+15G>C
XM_017028079.2:c.-538+727G>C	XP_016883568.1:n.-538+727G>C
XM_024452002.1:c.-538+839G>C	XP_024307770.1:n.-538+839G>C
XR_002958533.1:n.789+15G>C