Canonical Allele Identifier: CA1143547633
Gene: ATP13A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16996081C= , CM000663.2:g.16996081C= GRCh38
NC_000001.10:g.17322576C= , CM000663.1:g.17322576C= GRCh37
NC_000001.9:g.17195163C= NCBI36
NG_009054.1:g.20848G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000326735.13:c.1437G= MANE Select ENSP00000327214.8:p.Val479=
ENST00000326735.12:c.1437G= ENSP00000327214.8:p.Val479=
ENST00000341676.9:c.1422G= ENSP00000341115.5:p.Val474=
ENST00000452699.5:c.1422G= ENSP00000413307.1:p.Val474=
ENST00000463860.5:n.1045G=
ENST00000502860.1:n.465G=
ENST00000503552.1:c.114G= ENSP00000421126.1:p.Val38=
ENST00000509392.1:n.525G=
ENST00000617114.4:c.465G= ENSP00000478781.1:p.Val155=
NM_001141973.2:c.1422G= NP_001135445.1:p.Val474=
NM_001141974.2:c.1422G= NP_001135446.1:p.Val474=
NM_022089.3:c.1437G= NP_071372.1:p.Val479=
XM_005245809.1:c.1437G= XP_005245866.1:p.Val479=
XM_005245810.1:c.1434G= XP_005245867.1:p.Val478=
XM_005245811.1:c.1422G= XP_005245868.1:p.Val474=
XM_005245812.1:c.1410G= XP_005245869.1:p.Val470=
XM_005245813.1:c.1437G= XP_005245870.1:p.Val479=
XM_005245815.1:c.1437G= XP_005245872.1:p.Val479=
XM_006710512.1:c.1419G= XP_006710575.1:p.Val473=
XM_006710513.1:c.1395G= XP_006710576.1:p.Val465=
XM_011541128.1:c.1437G= XP_011539430.1:p.Val479=
XM_011541129.1:c.1437G= XP_011539431.1:p.Val479=
XM_017000844.1:c.1437G= XP_016856333.1:p.Val479=
XM_017000845.1:c.1419G= XP_016856334.1:p.Val473=
XM_017000846.1:c.1395G= XP_016856335.1:p.Val465=
XM_017000847.1:c.1407G= XP_016856336.1:p.Val469=
XM_017000848.1:c.1437G= XP_016856337.1:p.Val479=
XM_017000849.1:c.1422G= XP_016856338.1:p.Val474=
XM_017000850.1:c.1437G= XP_016856339.1:p.Val479=
NM_022089.4:c.1437G= MANE Select NP_071372.1:p.Val479=
NM_001141973.3:c.1422G= NP_001135445.1:p.Val474=
NM_001141974.3:c.1422G= NP_001135446.1:p.Val474=