Canonical Allele Identifier: CA18624631

Gene: ATP13A2

Linked Data

• dbSNP Id: rs868731446
• gnomAD v2: 1-17312713-G-A
• gnomAD v4: 1-16986218-G-A
• MyVariant Identifiers: chr1:g.17312713G>A (hg19) ; chr1:g.16986218G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986218G>A , CM000663.2:g.16986218G>A	GRCh38
NC_000001.10:g.17312713G>A , CM000663.1:g.17312713G>A	GRCh37
NC_000001.9:g.17185300G>A	NCBI36
NG_009054.1:g.30711C>T
NG_029688.1:g.369C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.*3C>T MANE Select	ENSP00000327214.8:n.*3C>T
ENST00000326735.12:c.*3C>T	ENSP00000327214.8:n.*3C>T
ENST00000341676.9:c.3244C>T	ENSP00000341115.5:p.Gln1082Ter
ENST00000452699.5:c.*3C>T	ENSP00000413307.1:n.*3C>T
ENST00000466561.1:n.1592C>T
ENST00000502418.1:c.964C>T	ENSP00000423065.1:p.Gln322Ter
NM_001141973.2:c.*3C>T	NP_001135445.1:n.*3C>T
NM_001141974.2:c.3244C>T	NP_001135446.1:p.Gln1082Ter
NM_022089.3:c.*3C>T	NP_071372.1:n.*3C>T
XM_005245809.1:c.3376C>T	XP_005245866.1:p.Gln1126Ter
XM_005245810.1:c.3373C>T	XP_005245867.1:p.Gln1125Ter
XM_005245811.1:c.3361C>T	XP_005245868.1:p.Gln1121Ter
XM_005245812.1:c.3349C>T	XP_005245869.1:p.Gln1117Ter
XM_005245813.1:c.3316C>T	XP_005245870.1:p.Gln1106Ter
XM_005245815.1:c.3259C>T	XP_005245872.1:p.Gln1087Ter
XM_006710512.1:c.3358C>T	XP_006710575.1:p.Gln1120Ter
XM_006710513.1:c.3334C>T	XP_006710576.1:p.Gln1112Ter
XM_011541128.1:c.3361C>T	XP_011539430.1:p.Gln1121Ter
XM_011541129.1:c.3169C>T	XP_011539431.1:p.Gln1057Ter
XM_017000844.1:c.*3C>T	XP_016856333.1:n.*3C>T
XM_017000845.1:c.*3C>T	XP_016856334.1:n.*3C>T
XM_017000846.1:c.*3C>T	XP_016856335.1:n.*3C>T
XM_017000847.1:c.*3C>T	XP_016856336.1:n.*3C>T
XM_017000848.1:c.*3C>T	XP_016856337.1:n.*3C>T
XM_017000849.1:c.*3C>T	XP_016856338.1:n.*3C>T
XM_017000850.1:c.*3C>T	XP_016856339.1:n.*3C>T
NM_022089.4:c.*3C>T MANE Select	NP_071372.1:n.*3C>T
NM_001141973.3:c.*3C>T	NP_001135445.1:n.*3C>T
NM_001141974.3:c.3244C>T	NP_001135446.1:p.Gln1082Ter