Canonical Allele Identifier: CA636469
Gene: ATP13A2 HGNC NCBI

Linked Data

dbSNP Id: rs777771033
gnomAD v2: 1-17312768-C-A
gnomAD v4: 1-16986273-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16986273C>A , CM000663.2:g.16986273C>A GRCh38
NC_000001.10:g.17312768C>A , CM000663.1:g.17312768C>A GRCh37
NC_000001.9:g.17185355C>A NCBI36
NG_009054.1:g.30656G>T
NG_029688.1:g.314G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000326735.13:c.3491G>T MANE Select ENSP00000327214.8:p.Arg1164Leu
ENST00000326735.12:c.3491G>T ENSP00000327214.8:p.Arg1164Leu
ENST00000341676.9:c.3189G>T ENSP00000341115.5:p.Thr1063=
ENST00000452699.5:c.3476G>T ENSP00000413307.1:p.Arg1159Leu
ENST00000466561.1:n.1537G>T
ENST00000502418.1:c.909G>T ENSP00000423065.1:p.Thr303=
NM_001141973.2:c.3476G>T NP_001135445.1:p.Arg1159Leu
NM_001141974.2:c.3189G>T NP_001135446.1:p.Thr1063=
NM_022089.3:c.3491G>T NP_071372.1:p.Arg1164Leu
XM_005245809.1:c.3321G>T XP_005245866.1:p.Thr1107=
XM_005245810.1:c.3318G>T XP_005245867.1:p.Thr1106=
XM_005245811.1:c.3306G>T XP_005245868.1:p.Thr1102=
XM_005245812.1:c.3294G>T XP_005245869.1:p.Thr1098=
XM_005245813.1:c.3261G>T XP_005245870.1:p.Thr1087=
XM_005245815.1:c.3204G>T XP_005245872.1:p.Thr1068=
XM_006710512.1:c.3303G>T XP_006710575.1:p.Thr1101=
XM_006710513.1:c.3279G>T XP_006710576.1:p.Thr1093=
XM_011541128.1:c.3306G>T XP_011539430.1:p.Thr1102=
XM_011541129.1:c.3114G>T XP_011539431.1:p.Thr1038=
XM_017000844.1:c.3476G>T XP_016856333.1:p.Arg1159Leu
XM_017000845.1:c.3473G>T XP_016856334.1:p.Arg1158Leu
XM_017000846.1:c.3449G>T XP_016856335.1:p.Arg1150Leu
XM_017000847.1:c.3446G>T XP_016856336.1:p.Arg1149Leu
XM_017000848.1:c.3374G>T XP_016856337.1:p.Arg1125Leu
XM_017000849.1:c.3359G>T XP_016856338.1:p.Arg1120Leu
XM_017000850.1:c.3284G>T XP_016856339.1:p.Arg1095Leu
NM_022089.4:c.3491G>T MANE Select NP_071372.1:p.Arg1164Leu
NM_001141973.3:c.3476G>T NP_001135445.1:p.Arg1159Leu
NM_001141974.3:c.3189G>T NP_001135446.1:p.Thr1063=