Canonical Allele Identifier: CA338232564

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17312842G>C (hg19) ; chr1:g.16986347G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986347G>C , CM000663.2:g.16986347G>C	GRCh38
NC_000001.10:g.17312842G>C , CM000663.1:g.17312842G>C	GRCh37
NC_000001.9:g.17185429G>C	NCBI36
NG_009054.1:g.30582C>G
NG_029688.1:g.240C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.3417C>G MANE Select	ENSP00000327214.8:p.Asp1139Glu
ENST00000326735.12:c.3417C>G	ENSP00000327214.8:p.Asp1139Glu
ENST00000341676.9:c.3115C>G	ENSP00000341115.5:p.Pro1039Ala
ENST00000452699.5:c.3402C>G	ENSP00000413307.1:p.Asp1134Glu
ENST00000466561.1:n.1463C>G
ENST00000502418.1:c.835C>G	ENSP00000423065.1:p.Pro279Ala
NM_001141973.2:c.3402C>G	NP_001135445.1:p.Asp1134Glu
NM_001141974.2:c.3115C>G	NP_001135446.1:p.Pro1039Ala
NM_022089.3:c.3417C>G	NP_071372.1:p.Asp1139Glu
XM_005245809.1:c.3247C>G	XP_005245866.1:p.Pro1083Ala
XM_005245810.1:c.3244C>G	XP_005245867.1:p.Pro1082Ala
XM_005245811.1:c.3232C>G	XP_005245868.1:p.Pro1078Ala
XM_005245812.1:c.3220C>G	XP_005245869.1:p.Pro1074Ala
XM_005245813.1:c.3187C>G	XP_005245870.1:p.Pro1063Ala
XM_005245815.1:c.3130C>G	XP_005245872.1:p.Pro1044Ala
XM_006710512.1:c.3229C>G	XP_006710575.1:p.Pro1077Ala
XM_006710513.1:c.3205C>G	XP_006710576.1:p.Pro1069Ala
XM_011541128.1:c.3232C>G	XP_011539430.1:p.Pro1078Ala
XM_011541129.1:c.3040C>G	XP_011539431.1:p.Pro1014Ala
XM_017000844.1:c.3402C>G	XP_016856333.1:p.Asp1134Glu
XM_017000845.1:c.3399C>G	XP_016856334.1:p.Asp1133Glu
XM_017000846.1:c.3375C>G	XP_016856335.1:p.Asp1125Glu
XM_017000847.1:c.3372C>G	XP_016856336.1:p.Asp1124Glu
XM_017000848.1:c.3300C>G	XP_016856337.1:p.Asp1100Glu
XM_017000849.1:c.3285C>G	XP_016856338.1:p.Asp1095Glu
XM_017000850.1:c.3210C>G	XP_016856339.1:p.Asp1070Glu
NM_022089.4:c.3417C>G MANE Select	NP_071372.1:p.Asp1139Glu
NM_001141973.3:c.3402C>G	NP_001135445.1:p.Asp1134Glu
NM_001141974.3:c.3115C>G	NP_001135446.1:p.Pro1039Ala