Canonical Allele Identifier: CA416094100

Gene: ATP13A2

Linked Data

• dbSNP Id: rs1365858933
• gnomAD v2: 1-17316257-G-T
• gnomAD v4: 1-16989762-G-T
• MyVariant Identifiers: chr1:g.17316257G>T (hg19) ; chr1:g.16989762G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16989762G>T , CM000663.2:g.16989762G>T	GRCh38
NC_000001.10:g.17316257G>T , CM000663.1:g.17316257G>T	GRCh37
NC_000001.9:g.17188844G>T	NCBI36
NG_009054.1:g.27167C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.2538C>A MANE Select	ENSP00000327214.8:p.Val846=
ENST00000326735.12:c.2538C>A	ENSP00000327214.8:p.Val846=
ENST00000341676.9:c.2406C>A	ENSP00000341115.5:p.Val802=
ENST00000452699.5:c.2523C>A	ENSP00000413307.1:p.Val841=
ENST00000466561.1:n.412C>A
ENST00000502418.1:c.126C>A	ENSP00000423065.1:p.Val42=
NM_001141973.2:c.2523C>A	NP_001135445.1:p.Val841=
NM_001141974.2:c.2406C>A	NP_001135446.1:p.Val802=
NM_022089.3:c.2538C>A	NP_071372.1:p.Val846=
XM_005245809.1:c.2538C>A	XP_005245866.1:p.Val846=
XM_005245810.1:c.2535C>A	XP_005245867.1:p.Val845=
XM_005245811.1:c.2523C>A	XP_005245868.1:p.Val841=
XM_005245812.1:c.2511C>A	XP_005245869.1:p.Val837=
XM_005245813.1:c.2478C>A	XP_005245870.1:p.Val826=
XM_005245815.1:c.2421C>A	XP_005245872.1:p.Val807=
XM_006710512.1:c.2520C>A	XP_006710575.1:p.Val840=
XM_006710513.1:c.2496C>A	XP_006710576.1:p.Val832=
XM_011541128.1:c.2523C>A	XP_011539430.1:p.Val841=
XM_011541129.1:c.2331C>A	XP_011539431.1:p.Val777=
XM_017000844.1:c.2523C>A	XP_016856333.1:p.Val841=
XM_017000845.1:c.2520C>A	XP_016856334.1:p.Val840=
XM_017000846.1:c.2496C>A	XP_016856335.1:p.Val832=
XM_017000847.1:c.2493C>A	XP_016856336.1:p.Val831=
XM_017000848.1:c.2421C>A	XP_016856337.1:p.Val807=
XM_017000849.1:c.2406C>A	XP_016856338.1:p.Val802=
XM_017000850.1:c.2331C>A	XP_016856339.1:p.Val777=
NM_022089.4:c.2538C>A MANE Select	NP_071372.1:p.Val846=
NM_001141973.3:c.2523C>A	NP_001135445.1:p.Val841=
NM_001141974.3:c.2406C>A	NP_001135446.1:p.Val802=