Canonical Allele Identifier: CA338232395

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17312800C>G (hg19) ; chr1:g.16986305C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986305C>G , CM000663.2:g.16986305C>G	GRCh38
NC_000001.10:g.17312800C>G , CM000663.1:g.17312800C>G	GRCh37
NC_000001.9:g.17185387C>G	NCBI36
NG_009054.1:g.30624G>C
NG_029688.1:g.282G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3459G>C MANE Select	ENSP00000327214.8:p.Arg1153=
ENST00000326735.12:c.3459G>C	ENSP00000327214.8:p.Arg1153=
ENST00000341676.9:c.3157G>C	ENSP00000341115.5:p.Gly1053Arg
ENST00000452699.5:c.3444G>C	ENSP00000413307.1:p.Arg1148=
ENST00000466561.1:n.1505G>C
ENST00000502418.1:c.877G>C	ENSP00000423065.1:p.Gly293Arg
NM_001141973.2:c.3444G>C	NP_001135445.1:p.Arg1148=
NM_001141974.2:c.3157G>C	NP_001135446.1:p.Gly1053Arg
NM_022089.3:c.3459G>C	NP_071372.1:p.Arg1153=
XM_005245809.1:c.3289G>C	XP_005245866.1:p.Gly1097Arg
XM_005245810.1:c.3286G>C	XP_005245867.1:p.Gly1096Arg
XM_005245811.1:c.3274G>C	XP_005245868.1:p.Gly1092Arg
XM_005245812.1:c.3262G>C	XP_005245869.1:p.Gly1088Arg
XM_005245813.1:c.3229G>C	XP_005245870.1:p.Gly1077Arg
XM_005245815.1:c.3172G>C	XP_005245872.1:p.Gly1058Arg
XM_006710512.1:c.3271G>C	XP_006710575.1:p.Gly1091Arg
XM_006710513.1:c.3247G>C	XP_006710576.1:p.Gly1083Arg
XM_011541128.1:c.3274G>C	XP_011539430.1:p.Gly1092Arg
XM_011541129.1:c.3082G>C	XP_011539431.1:p.Gly1028Arg
XM_017000844.1:c.3444G>C	XP_016856333.1:p.Arg1148=
XM_017000845.1:c.3441G>C	XP_016856334.1:p.Arg1147=
XM_017000846.1:c.3417G>C	XP_016856335.1:p.Arg1139=
XM_017000847.1:c.3414G>C	XP_016856336.1:p.Arg1138=
XM_017000848.1:c.3342G>C	XP_016856337.1:p.Arg1114=
XM_017000849.1:c.3327G>C	XP_016856338.1:p.Arg1109=
XM_017000850.1:c.3252G>C	XP_016856339.1:p.Arg1084=
NM_022089.4:c.3459G>C MANE Select	NP_071372.1:p.Arg1153=
NM_001141973.3:c.3444G>C	NP_001135445.1:p.Arg1148=
NM_001141974.3:c.3157G>C	NP_001135446.1:p.Gly1053Arg