Canonical Allele Identifier: CA338233623

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17313383A>G (hg19) ; chr1:g.16986888A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986888A>G , CM000663.2:g.16986888A>G	GRCh38
NC_000001.10:g.17313383A>G , CM000663.1:g.17313383A>G	GRCh37
NC_000001.9:g.17185970A>G	NCBI36
NG_009054.1:g.30041T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3152T>C MANE Select	ENSP00000327214.8:p.Phe1051Ser
ENST00000326735.12:c.3152T>C	ENSP00000327214.8:p.Phe1051Ser
ENST00000341676.9:c.3020T>C	ENSP00000341115.5:p.Phe1007Ser
ENST00000452699.5:c.3137T>C	ENSP00000413307.1:p.Phe1046Ser
ENST00000466561.1:n.1026T>C
ENST00000502418.1:c.740T>C	ENSP00000423065.1:p.Phe247Ser
NM_001141973.2:c.3137T>C	NP_001135445.1:p.Phe1046Ser
NM_001141974.2:c.3020T>C	NP_001135446.1:p.Phe1007Ser
NM_022089.3:c.3152T>C	NP_071372.1:p.Phe1051Ser
XM_005245809.1:c.3152T>C	XP_005245866.1:p.Phe1051Ser
XM_005245810.1:c.3149T>C	XP_005245867.1:p.Phe1050Ser
XM_005245811.1:c.3137T>C	XP_005245868.1:p.Phe1046Ser
XM_005245812.1:c.3125T>C	XP_005245869.1:p.Phe1042Ser
XM_005245813.1:c.3092T>C	XP_005245870.1:p.Phe1031Ser
XM_005245815.1:c.3035T>C	XP_005245872.1:p.Phe1012Ser
XM_006710512.1:c.3134T>C	XP_006710575.1:p.Phe1045Ser
XM_006710513.1:c.3110T>C	XP_006710576.1:p.Phe1037Ser
XM_011541128.1:c.3137T>C	XP_011539430.1:p.Phe1046Ser
XM_011541129.1:c.2945T>C	XP_011539431.1:p.Phe982Ser
XM_017000844.1:c.3137T>C	XP_016856333.1:p.Phe1046Ser
XM_017000845.1:c.3134T>C	XP_016856334.1:p.Phe1045Ser
XM_017000846.1:c.3110T>C	XP_016856335.1:p.Phe1037Ser
XM_017000847.1:c.3107T>C	XP_016856336.1:p.Phe1036Ser
XM_017000848.1:c.3035T>C	XP_016856337.1:p.Phe1012Ser
XM_017000849.1:c.3020T>C	XP_016856338.1:p.Phe1007Ser
XM_017000850.1:c.2945T>C	XP_016856339.1:p.Phe982Ser
NM_022089.4:c.3152T>C MANE Select	NP_071372.1:p.Phe1051Ser
NM_001141973.3:c.3137T>C	NP_001135445.1:p.Phe1046Ser
NM_001141974.3:c.3020T>C	NP_001135446.1:p.Phe1007Ser