Canonical Allele Identifier: CA637462
Community Standard Title: NM_022089.4(ATP13A2):c.846C>T (p.Ser282=)
Gene: ATP13A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17000307G>A , CM000663.2:g.17000307G>A GRCh38
NC_000001.10:g.17326802G>A , CM000663.1:g.17326802G>A GRCh37
NC_000001.9:g.17199389G>A NCBI36
NG_009054.1:g.16622C>T

Transcript Alleles

HGVS Amino-acid Change
NM_022089.4:c.846C>T MANE Select NP_071372.1:p.Ser282=
ENST00000326735.13:c.846C>T MANE Select ENSP00000327214.8:p.Ser282=
NM_001141973.2:c.831C>T NP_001135445.1:p.Ser277=
NM_001141973.3:c.831C>T NP_001135445.1:p.Ser277=
NM_001141974.2:c.831C>T NP_001135446.1:p.Ser277=
NM_001141974.3:c.831C>T NP_001135446.1:p.Ser277=
NM_022089.3:c.846C>T NP_071372.1:p.Ser282=
ENST00000326735.12:c.846C>T ENSP00000327214.8:p.Ser282=
ENST00000341676.9:c.831C>T ENSP00000341115.5:p.Ser277=
ENST00000452699.5:c.831C>T ENSP00000413307.1:p.Ser277=
ENST00000463860.5:n.454C>T
ENST00000506174.5:c.6C>T ENSP00000424393.1:p.Ser2=
ENST00000508222.5:c.538C>T
ENST00000510069.5:c.769C>T
ENST00000511957.5:c.531C>T ENSP00000427241.1:p.Ser177=
ENST00000617114.4:c.-16C>T ENSP00000478781.1:n.-16C>T
XM_005245809.1:c.846C>T XP_005245866.1:p.Ser282=
XM_005245810.1:c.843C>T XP_005245867.1:p.Ser281=
XM_005245811.1:c.831C>T XP_005245868.1:p.Ser277=
XM_005245812.1:c.819C>T XP_005245869.1:p.Ser273=
XM_005245813.1:c.846C>T XP_005245870.1:p.Ser282=
XM_005245815.1:c.846C>T XP_005245872.1:p.Ser282=
XM_006710512.1:c.828C>T XP_006710575.1:p.Ser276=
XM_006710513.1:c.804C>T XP_006710576.1:p.Ser268=
XM_011541128.1:c.846C>T XP_011539430.1:p.Ser282=
XM_011541129.1:c.846C>T XP_011539431.1:p.Ser282=
XM_017000844.1:c.846C>T XP_016856333.1:p.Ser282=
XM_017000845.1:c.828C>T XP_016856334.1:p.Ser276=
XM_017000846.1:c.804C>T XP_016856335.1:p.Ser268=
XM_017000847.1:c.816C>T XP_016856336.1:p.Ser272=
XM_017000848.1:c.846C>T XP_016856337.1:p.Ser282=
XM_017000849.1:c.831C>T XP_016856338.1:p.Ser277=
XM_017000850.1:c.846C>T XP_016856339.1:p.Ser282=