Canonical Allele Identifier: CA636443

Gene: ATP13A2

Linked Data

• dbSNP Id: rs764964693
• ExAC: 1:17312678 C / T
• gnomAD v2: 1-17312678-C-T
• gnomAD v3: 1-16986183-C-T
• gnomAD v4: 1-16986183-C-T
• MyVariant Identifiers: chr1:g.17312678C>T (hg19) ; chr1:g.16986183C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986183C>T , CM000663.2:g.16986183C>T	GRCh38
NC_000001.10:g.17312678C>T , CM000663.1:g.17312678C>T	GRCh37
NC_000001.9:g.17185265C>T	NCBI36
NG_009054.1:g.30746G>A
NG_029688.1:g.404G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.*38G>A MANE Select	ENSP00000327214.8:n.*38G>A
ENST00000326735.12:c.*38G>A	ENSP00000327214.8:n.*38G>A
ENST00000341676.9:c.3279G>A	ENSP00000341115.5:p.Leu1093=
ENST00000452699.5:c.*38G>A	ENSP00000413307.1:n.*38G>A
ENST00000466561.1:n.1627G>A
ENST00000502418.1:c.999G>A	ENSP00000423065.1:p.Leu333=
NM_001141973.2:c.*38G>A	NP_001135445.1:n.*38G>A
NM_001141974.2:c.3279G>A	NP_001135446.1:p.Leu1093=
NM_022089.3:c.*38G>A	NP_071372.1:n.*38G>A
XM_005245809.1:c.3411G>A	XP_005245866.1:p.Leu1137=
XM_005245810.1:c.3408G>A	XP_005245867.1:p.Leu1136=
XM_005245811.1:c.3396G>A	XP_005245868.1:p.Leu1132=
XM_005245812.1:c.3384G>A	XP_005245869.1:p.Leu1128=
XM_005245813.1:c.3351G>A	XP_005245870.1:p.Leu1117=
XM_005245815.1:c.3294G>A	XP_005245872.1:p.Leu1098=
XM_006710512.1:c.3393G>A	XP_006710575.1:p.Leu1131=
XM_006710513.1:c.3369G>A	XP_006710576.1:p.Leu1123=
XM_011541128.1:c.3396G>A	XP_011539430.1:p.Leu1132=
XM_011541129.1:c.3204G>A	XP_011539431.1:p.Leu1068=
XM_017000844.1:c.*38G>A	XP_016856333.1:n.*38G>A
XM_017000845.1:c.*38G>A	XP_016856334.1:n.*38G>A
XM_017000846.1:c.*38G>A	XP_016856335.1:n.*38G>A
XM_017000847.1:c.*38G>A	XP_016856336.1:n.*38G>A
XM_017000848.1:c.*38G>A	XP_016856337.1:n.*38G>A
XM_017000849.1:c.*38G>A	XP_016856338.1:n.*38G>A
XM_017000850.1:c.*38G>A	XP_016856339.1:n.*38G>A
NM_022089.4:c.*38G>A MANE Select	NP_071372.1:n.*38G>A
NM_001141973.3:c.*38G>A	NP_001135445.1:n.*38G>A
NM_001141974.3:c.3279G>A	NP_001135446.1:p.Leu1093=