Canonical Allele Identifier: CA636787

Gene: ATP13A2

Linked Data

• dbSNP Id: rs747242869
• ExAC: 1:17316241 C / A
• gnomAD v2: 1-17316241-C-A
• MyVariant Identifiers: chr1:g.17316241C>A (hg19) ; chr1:g.16989746C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16989746C>A , CM000663.2:g.16989746C>A	GRCh38
NC_000001.10:g.17316241C>A , CM000663.1:g.17316241C>A	GRCh37
NC_000001.9:g.17188828C>A	NCBI36
NG_009054.1:g.27183G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.2554G>T MANE Select	ENSP00000327214.8:p.Ala852Ser
ENST00000326735.12:c.2554G>T	ENSP00000327214.8:p.Ala852Ser
ENST00000341676.9:c.2422G>T	ENSP00000341115.5:p.Ala808Ser
ENST00000452699.5:c.2539G>T	ENSP00000413307.1:p.Ala847Ser
ENST00000466561.1:n.428G>T
ENST00000502418.1:c.142G>T	ENSP00000423065.1:p.Ala48Ser
NM_001141973.2:c.2539G>T	NP_001135445.1:p.Ala847Ser
NM_001141974.2:c.2422G>T	NP_001135446.1:p.Ala808Ser
NM_022089.3:c.2554G>T	NP_071372.1:p.Ala852Ser
XM_005245809.1:c.2554G>T	XP_005245866.1:p.Ala852Ser
XM_005245810.1:c.2551G>T	XP_005245867.1:p.Ala851Ser
XM_005245811.1:c.2539G>T	XP_005245868.1:p.Ala847Ser
XM_005245812.1:c.2527G>T	XP_005245869.1:p.Ala843Ser
XM_005245813.1:c.2494G>T	XP_005245870.1:p.Ala832Ser
XM_005245815.1:c.2437G>T	XP_005245872.1:p.Ala813Ser
XM_006710512.1:c.2536G>T	XP_006710575.1:p.Ala846Ser
XM_006710513.1:c.2512G>T	XP_006710576.1:p.Ala838Ser
XM_011541128.1:c.2539G>T	XP_011539430.1:p.Ala847Ser
XM_011541129.1:c.2347G>T	XP_011539431.1:p.Ala783Ser
XM_017000844.1:c.2539G>T	XP_016856333.1:p.Ala847Ser
XM_017000845.1:c.2536G>T	XP_016856334.1:p.Ala846Ser
XM_017000846.1:c.2512G>T	XP_016856335.1:p.Ala838Ser
XM_017000847.1:c.2509G>T	XP_016856336.1:p.Ala837Ser
XM_017000848.1:c.2437G>T	XP_016856337.1:p.Ala813Ser
XM_017000849.1:c.2422G>T	XP_016856338.1:p.Ala808Ser
XM_017000850.1:c.2347G>T	XP_016856339.1:p.Ala783Ser
NM_022089.4:c.2554G>T MANE Select	NP_071372.1:p.Ala852Ser
NM_001141973.3:c.2539G>T	NP_001135445.1:p.Ala847Ser
NM_001141974.3:c.2422G>T	NP_001135446.1:p.Ala808Ser