Canonical Allele Identifier: CA338232200

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17312766C>G (hg19) ; chr1:g.16986271C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986271C>G , CM000663.2:g.16986271C>G	GRCh38
NC_000001.10:g.17312766C>G , CM000663.1:g.17312766C>G	GRCh37
NC_000001.9:g.17185353C>G	NCBI36
NG_009054.1:g.30658G>C
NG_029688.1:g.316G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3493G>C MANE Select	ENSP00000327214.8:p.Glu1165Gln
ENST00000326735.12:c.3493G>C	ENSP00000327214.8:p.Glu1165Gln
ENST00000341676.9:c.3191G>C	ENSP00000341115.5:p.Arg1064Thr
ENST00000452699.5:c.3478G>C	ENSP00000413307.1:p.Glu1160Gln
ENST00000466561.1:n.1539G>C
ENST00000502418.1:c.911G>C	ENSP00000423065.1:p.Arg304Thr
NM_001141973.2:c.3478G>C	NP_001135445.1:p.Glu1160Gln
NM_001141974.2:c.3191G>C	NP_001135446.1:p.Arg1064Thr
NM_022089.3:c.3493G>C	NP_071372.1:p.Glu1165Gln
XM_005245809.1:c.3323G>C	XP_005245866.1:p.Arg1108Thr
XM_005245810.1:c.3320G>C	XP_005245867.1:p.Arg1107Thr
XM_005245811.1:c.3308G>C	XP_005245868.1:p.Arg1103Thr
XM_005245812.1:c.3296G>C	XP_005245869.1:p.Arg1099Thr
XM_005245813.1:c.3263G>C	XP_005245870.1:p.Arg1088Thr
XM_005245815.1:c.3206G>C	XP_005245872.1:p.Arg1069Thr
XM_006710512.1:c.3305G>C	XP_006710575.1:p.Arg1102Thr
XM_006710513.1:c.3281G>C	XP_006710576.1:p.Arg1094Thr
XM_011541128.1:c.3308G>C	XP_011539430.1:p.Arg1103Thr
XM_011541129.1:c.3116G>C	XP_011539431.1:p.Arg1039Thr
XM_017000844.1:c.3478G>C	XP_016856333.1:p.Glu1160Gln
XM_017000845.1:c.3475G>C	XP_016856334.1:p.Glu1159Gln
XM_017000846.1:c.3451G>C	XP_016856335.1:p.Glu1151Gln
XM_017000847.1:c.3448G>C	XP_016856336.1:p.Glu1150Gln
XM_017000848.1:c.3376G>C	XP_016856337.1:p.Glu1126Gln
XM_017000849.1:c.3361G>C	XP_016856338.1:p.Glu1121Gln
XM_017000850.1:c.3286G>C	XP_016856339.1:p.Glu1096Gln
NM_022089.4:c.3493G>C MANE Select	NP_071372.1:p.Glu1165Gln
NM_001141973.3:c.3478G>C	NP_001135445.1:p.Glu1160Gln
NM_001141974.3:c.3191G>C	NP_001135446.1:p.Arg1064Thr