Canonical Allele Identifier: CA636413

Gene: ATP13A2

Linked Data

• ClinVar Variation Id: 2638388
• ClinVar RCV Id: RCV003412811
• dbSNP Id: rs185521359
• ExAC: 1:17312558 A / C
• gnomAD v2: 1-17312558-A-C
• gnomAD v3: 1-16986063-A-C
• gnomAD v4: 1-16986063-A-C
• MyVariant Identifiers: chr1:g.17312558A>C (hg19) ; chr1:g.16986063A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986063A>C , CM000663.2:g.16986063A>C	GRCh38
NC_000001.10:g.17312558A>C , CM000663.1:g.17312558A>C	GRCh37
NC_000001.9:g.17185145A>C	NCBI36
NG_009054.1:g.30866T>G
NG_029688.1:g.524T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.*158T>G MANE Select	ENSP00000327214.8:n.*158T>G
ENST00000326735.12:c.*158T>G	ENSP00000327214.8:n.*158T>G
ENST00000341676.9:c.3399T>G	ENSP00000341115.5:p.Val1133=
ENST00000452699.5:c.*158T>G	ENSP00000413307.1:n.*158T>G
ENST00000466561.1:n.1747T>G
ENST00000502418.1:c.1119T>G	ENSP00000423065.1:p.Val373=
NM_001141973.2:c.*158T>G	NP_001135445.1:n.*158T>G
NM_001141974.2:c.3399T>G	NP_001135446.1:p.Val1133=
NM_022089.3:c.*158T>G	NP_071372.1:n.*158T>G
XM_005245809.1:c.3531T>G	XP_005245866.1:p.Val1177=
XM_005245810.1:c.3528T>G	XP_005245867.1:p.Val1176=
XM_005245811.1:c.3516T>G	XP_005245868.1:p.Val1172=
XM_005245812.1:c.3504T>G	XP_005245869.1:p.Val1168=
XM_005245813.1:c.3471T>G	XP_005245870.1:p.Val1157=
XM_005245815.1:c.3414T>G	XP_005245872.1:p.Val1138=
XM_006710512.1:c.3513T>G	XP_006710575.1:p.Val1171=
XM_006710513.1:c.3489T>G	XP_006710576.1:p.Val1163=
XM_011541128.1:c.3516T>G	XP_011539430.1:p.Val1172=
XM_011541129.1:c.3324T>G	XP_011539431.1:p.Val1108=
XM_017000844.1:c.*158T>G	XP_016856333.1:n.*158T>G
XM_017000845.1:c.*158T>G	XP_016856334.1:n.*158T>G
XM_017000846.1:c.*158T>G	XP_016856335.1:n.*158T>G
XM_017000847.1:c.*158T>G	XP_016856336.1:n.*158T>G
XM_017000848.1:c.*158T>G	XP_016856337.1:n.*158T>G
XM_017000849.1:c.*158T>G	XP_016856338.1:n.*158T>G
XM_017000850.1:c.*158T>G	XP_016856339.1:n.*158T>G
NM_022089.4:c.*158T>G MANE Select	NP_071372.1:n.*158T>G
NM_001141973.3:c.*158T>G	NP_001135445.1:n.*158T>G
NM_001141974.3:c.3399T>G	NP_001135446.1:p.Val1133=