Canonical Allele Identifier: CA338233684

Gene: ATP13A2

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986901T>G , CM000663.2:g.16986901T>G	GRCh38
NC_000001.10:g.17313396T>G , CM000663.1:g.17313396T>G	GRCh37
NC_000001.9:g.17185983T>G	NCBI36
NG_009054.1:g.30028A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3139A>C MANE Select	ENSP00000327214.8:p.Asn1047His
ENST00000326735.12:c.3139A>C	ENSP00000327214.8:p.Asn1047His
ENST00000341676.9:c.3007A>C	ENSP00000341115.5:p.Asn1003His
ENST00000452699.5:c.3124A>C	ENSP00000413307.1:p.Asn1042His
ENST00000466561.1:n.1013A>C
ENST00000502418.1:c.727A>C	ENSP00000423065.1:p.Asn243His
NM_001141973.2:c.3124A>C	NP_001135445.1:p.Asn1042His
NM_001141974.2:c.3007A>C	NP_001135446.1:p.Asn1003His
NM_022089.3:c.3139A>C	NP_071372.1:p.Asn1047His
XM_005245809.1:c.3139A>C	XP_005245866.1:p.Asn1047His
XM_005245810.1:c.3136A>C	XP_005245867.1:p.Asn1046His
XM_005245811.1:c.3124A>C	XP_005245868.1:p.Asn1042His
XM_005245812.1:c.3112A>C	XP_005245869.1:p.Asn1038His
XM_005245813.1:c.3079A>C	XP_005245870.1:p.Asn1027His
XM_005245815.1:c.3022A>C	XP_005245872.1:p.Asn1008His
XM_006710512.1:c.3121A>C	XP_006710575.1:p.Asn1041His
XM_006710513.1:c.3097A>C	XP_006710576.1:p.Asn1033His
XM_011541128.1:c.3124A>C	XP_011539430.1:p.Asn1042His
XM_011541129.1:c.2932A>C	XP_011539431.1:p.Asn978His
XM_017000844.1:c.3124A>C	XP_016856333.1:p.Asn1042His
XM_017000845.1:c.3121A>C	XP_016856334.1:p.Asn1041His
XM_017000846.1:c.3097A>C	XP_016856335.1:p.Asn1033His
XM_017000847.1:c.3094A>C	XP_016856336.1:p.Asn1032His
XM_017000848.1:c.3022A>C	XP_016856337.1:p.Asn1008His
XM_017000849.1:c.3007A>C	XP_016856338.1:p.Asn1003His
XM_017000850.1:c.2932A>C	XP_016856339.1:p.Asn978His
NM_022089.4:c.3139A>C MANE Select	NP_071372.1:p.Asn1047His
NM_001141973.3:c.3124A>C	NP_001135445.1:p.Asn1042His
NM_001141974.3:c.3007A>C	NP_001135446.1:p.Asn1003His