Canonical Allele Identifier: CA338232572

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17312843T>G (hg19) ; chr1:g.16986348T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986348T>G , CM000663.2:g.16986348T>G	GRCh38
NC_000001.10:g.17312843T>G , CM000663.1:g.17312843T>G	GRCh37
NC_000001.9:g.17185430T>G	NCBI36
NG_009054.1:g.30581A>C
NG_029688.1:g.239A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3416A>C MANE Select	ENSP00000327214.8:p.Asp1139Ala
ENST00000326735.12:c.3416A>C	ENSP00000327214.8:p.Asp1139Ala
ENST00000341676.9:c.3114A>C	ENSP00000341115.5:p.Arg1038Ser
ENST00000452699.5:c.3401A>C	ENSP00000413307.1:p.Asp1134Ala
ENST00000466561.1:n.1462A>C
ENST00000502418.1:c.834A>C	ENSP00000423065.1:p.Arg278Ser
NM_001141973.2:c.3401A>C	NP_001135445.1:p.Asp1134Ala
NM_001141974.2:c.3114A>C	NP_001135446.1:p.Arg1038Ser
NM_022089.3:c.3416A>C	NP_071372.1:p.Asp1139Ala
XM_005245809.1:c.3246A>C	XP_005245866.1:p.Arg1082Ser
XM_005245810.1:c.3243A>C	XP_005245867.1:p.Arg1081Ser
XM_005245811.1:c.3231A>C	XP_005245868.1:p.Arg1077Ser
XM_005245812.1:c.3219A>C	XP_005245869.1:p.Arg1073Ser
XM_005245813.1:c.3186A>C	XP_005245870.1:p.Arg1062Ser
XM_005245815.1:c.3129A>C	XP_005245872.1:p.Arg1043Ser
XM_006710512.1:c.3228A>C	XP_006710575.1:p.Arg1076Ser
XM_006710513.1:c.3204A>C	XP_006710576.1:p.Arg1068Ser
XM_011541128.1:c.3231A>C	XP_011539430.1:p.Arg1077Ser
XM_011541129.1:c.3039A>C	XP_011539431.1:p.Arg1013Ser
XM_017000844.1:c.3401A>C	XP_016856333.1:p.Asp1134Ala
XM_017000845.1:c.3398A>C	XP_016856334.1:p.Asp1133Ala
XM_017000846.1:c.3374A>C	XP_016856335.1:p.Asp1125Ala
XM_017000847.1:c.3371A>C	XP_016856336.1:p.Asp1124Ala
XM_017000848.1:c.3299A>C	XP_016856337.1:p.Asp1100Ala
XM_017000849.1:c.3284A>C	XP_016856338.1:p.Asp1095Ala
XM_017000850.1:c.3209A>C	XP_016856339.1:p.Asp1070Ala
NM_022089.4:c.3416A>C MANE Select	NP_071372.1:p.Asp1139Ala
NM_001141973.3:c.3401A>C	NP_001135445.1:p.Asp1134Ala
NM_001141974.3:c.3114A>C	NP_001135446.1:p.Arg1038Ser