Canonical Allele Identifier: CA408112827

Gene: PANK2

Linked Data

• MyVariant Identifiers: chr20:g.3888861G>C (hg19) ; chr20:g.3908214G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3908214G>C , CM000682.2:g.3908214G>C	GRCh38
NC_000020.10:g.3888861G>C , CM000682.1:g.3888861G>C	GRCh37
NC_000020.9:g.3836861G>C	NCBI36
NG_008131.3:g.24376G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610179.7:c.587G>C MANE Select	ENSP00000477429.2:p.Ser196Thr
ENST00000316562.9:c.917G>C	ENSP00000313377.4:p.Ser306Thr
ENST00000336066.8:c.508+79G>C	ENSP00000477229.2:n.508+79G>C
ENST00000610179.6:c.587G>C	ENSP00000477429.2:p.Ser196Thr
ENST00000643504.2:c.*281+79G>C	ENSP00000495157.2:n.*281+79G>C
ENST00000646394.1:c.414G>C
ENST00000316562.8:c.917G>C	ENSP00000313377.4:p.Ser306Thr
ENST00000336066.7:c.469+79G>C	ENSP00000477229.1:n.469+79G>C
ENST00000471830.1:n.382+79G>C
ENST00000495692.5:c.-328+79G>C	ENSP00000476745.1:n.-328+79G>C
ENST00000497424.5:c.44G>C	ENSP00000417609.1:p.Ser15Thr
ENST00000610179.5:c.548G>C	ENSP00000477429.1:p.Ser183Thr
ENST00000621507.1:c.44G>C	ENSP00000481523.1:p.Ser15Thr
NM_024960.4:c.44G>C	NP_079236.3:p.Ser15Thr
NM_153638.2:c.917G>C	NP_705902.2:p.Ser306Thr
NM_153640.2:c.44G>C	NP_705904.1:p.Ser15Thr
XM_005260835.2:c.302G>C	XP_005260892.1:p.Ser101Thr
XM_005260836.3:c.44G>C	XP_005260893.3:p.Ser15Thr
XM_006723631.1:c.44G>C	XP_006723694.1:p.Ser15Thr
XM_011529364.1:c.917G>C	XP_011527666.1:p.Ser306Thr
XM_011529365.1:c.838+79G>C	XP_011527667.1:n.838+79G>C
NM_001324191.1:c.44G>C	NP_001311120.1:p.Ser15Thr
NM_001324192.1:c.917G>C	NP_001311121.1:p.Ser306Thr
NM_001324193.1:c.-328+79G>C	NP_001311122.1:n.-328+79G>C
NM_024960.5:c.44G>C	NP_079236.3:p.Ser15Thr
NM_153638.3:c.917G>C	NP_705902.2:p.Ser306Thr
NM_153640.3:c.44G>C	NP_705904.1:p.Ser15Thr
NR_136715.1:n.1005+79G>C
XM_005260835.3:c.302G>C	XP_005260892.1:p.Ser101Thr
XM_005260836.4:c.44G>C	XP_005260893.3:p.Ser15Thr
XM_011529364.3:c.917G>C	XP_011527666.1:p.Ser306Thr
XM_011529365.2:c.838+79G>C	XP_011527667.1:n.838+79G>C
XM_017028077.2:c.-328+79G>C	XP_016883566.1:n.-328+79G>C
XM_017028078.2:c.-328+79G>C	XP_016883567.1:n.-328+79G>C
XM_017028079.2:c.-328+79G>C	XP_016883568.1:n.-328+79G>C
XM_024452002.1:c.-328+79G>C	XP_024307770.1:n.-328+79G>C
XR_002958533.1:n.1078G>C
NM_001324191.2:c.44G>C	NP_001311120.1:p.Ser15Thr
NM_001324193.2:c.-328+79G>C	NP_001311122.1:n.-328+79G>C
NM_024960.6:c.44G>C	NP_079236.3:p.Ser15Thr
NR_136715.2:n.552+79G>C
NM_001386393.1:c.587G>C MANE Select	NP_001373322.1:p.Ser196Thr
NM_153638.4:c.917G>C	NP_705902.2:p.Ser306Thr
NM_153640.4:c.44G>C	NP_705904.1:p.Ser15Thr