Canonical Allele Identifier: CA416094035

Gene: ATP13A2

Linked Data

• ClinVar Variation Id: 1077368
• ClinVar RCV Id: RCV001391944
• dbSNP Id: rs1295653375
• gnomAD v2: 1-17316215-T-C
• MyVariant Identifiers: chr1:g.17316215T>C (hg19) ; chr1:g.16989720T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16989720T>C , CM000663.2:g.16989720T>C	GRCh38
NC_000001.10:g.17316215T>C , CM000663.1:g.17316215T>C	GRCh37
NC_000001.9:g.17188802T>C	NCBI36
NG_009054.1:g.27209A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.2580A>G MANE Select	ENSP00000327214.8:p.Thr860=
ENST00000326735.12:c.2580A>G	ENSP00000327214.8:p.Thr860=
ENST00000341676.9:c.2448A>G	ENSP00000341115.5:p.Thr816=
ENST00000452699.5:c.2565A>G	ENSP00000413307.1:p.Thr855=
ENST00000466561.1:n.454A>G
ENST00000502418.1:c.168A>G	ENSP00000423065.1:p.Thr56=
NM_001141973.2:c.2565A>G	NP_001135445.1:p.Thr855=
NM_001141974.2:c.2448A>G	NP_001135446.1:p.Thr816=
NM_022089.3:c.2580A>G	NP_071372.1:p.Thr860=
XM_005245809.1:c.2580A>G	XP_005245866.1:p.Thr860=
XM_005245810.1:c.2577A>G	XP_005245867.1:p.Thr859=
XM_005245811.1:c.2565A>G	XP_005245868.1:p.Thr855=
XM_005245812.1:c.2553A>G	XP_005245869.1:p.Thr851=
XM_005245813.1:c.2520A>G	XP_005245870.1:p.Thr840=
XM_005245815.1:c.2463A>G	XP_005245872.1:p.Thr821=
XM_006710512.1:c.2562A>G	XP_006710575.1:p.Thr854=
XM_006710513.1:c.2538A>G	XP_006710576.1:p.Thr846=
XM_011541128.1:c.2565A>G	XP_011539430.1:p.Thr855=
XM_011541129.1:c.2373A>G	XP_011539431.1:p.Thr791=
XM_017000844.1:c.2565A>G	XP_016856333.1:p.Thr855=
XM_017000845.1:c.2562A>G	XP_016856334.1:p.Thr854=
XM_017000846.1:c.2538A>G	XP_016856335.1:p.Thr846=
XM_017000847.1:c.2535A>G	XP_016856336.1:p.Thr845=
XM_017000848.1:c.2463A>G	XP_016856337.1:p.Thr821=
XM_017000849.1:c.2448A>G	XP_016856338.1:p.Thr816=
XM_017000850.1:c.2373A>G	XP_016856339.1:p.Thr791=
NM_022089.4:c.2580A>G MANE Select	NP_071372.1:p.Thr860=
NM_001141973.3:c.2565A>G	NP_001135445.1:p.Thr855=
NM_001141974.3:c.2448A>G	NP_001135446.1:p.Thr816=