Canonical Allele Identifier: CA521449698

Gene: ATP13A2

Linked Data

• dbSNP Id: rs1350751200
• gnomAD v2: 1-17316270-G-A
• gnomAD v4: 1-16989775-G-A
• MyVariant Identifiers: chr1:g.17316270G>A (hg19) ; chr1:g.16989775G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16989775G>A , CM000663.2:g.16989775G>A	GRCh38
NC_000001.10:g.17316270G>A , CM000663.1:g.17316270G>A	GRCh37
NC_000001.9:g.17188857G>A	NCBI36
NG_009054.1:g.27154C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.2530-5C>T MANE Select	ENSP00000327214.8:n.2530-5C>T
ENST00000326735.12:c.2530-5C>T	ENSP00000327214.8:n.2530-5C>T
ENST00000341676.9:c.2398-5C>T	ENSP00000341115.5:n.2398-5C>T
ENST00000452699.5:c.2515-5C>T	ENSP00000413307.1:n.2515-5C>T
ENST00000466561.1:n.404-5C>T
ENST00000502418.1:c.118-5C>T	ENSP00000423065.1:n.118-5C>T
NM_001141973.2:c.2515-5C>T	NP_001135445.1:n.2515-5C>T
NM_001141974.2:c.2398-5C>T	NP_001135446.1:n.2398-5C>T
NM_022089.3:c.2530-5C>T	NP_071372.1:n.2530-5C>T
XM_005245809.1:c.2530-5C>T	XP_005245866.1:n.2530-5C>T
XM_005245810.1:c.2527-5C>T	XP_005245867.1:n.2527-5C>T
XM_005245811.1:c.2515-5C>T	XP_005245868.1:n.2515-5C>T
XM_005245812.1:c.2503-5C>T	XP_005245869.1:n.2503-5C>T
XM_005245813.1:c.2470-5C>T	XP_005245870.1:n.2470-5C>T
XM_005245815.1:c.2413-5C>T	XP_005245872.1:n.2413-5C>T
XM_006710512.1:c.2512-5C>T	XP_006710575.1:n.2512-5C>T
XM_006710513.1:c.2488-5C>T	XP_006710576.1:n.2488-5C>T
XM_011541128.1:c.2515-5C>T	XP_011539430.1:n.2515-5C>T
XM_011541129.1:c.2323-5C>T	XP_011539431.1:n.2323-5C>T
XM_017000844.1:c.2515-5C>T	XP_016856333.1:n.2515-5C>T
XM_017000845.1:c.2512-5C>T	XP_016856334.1:n.2512-5C>T
XM_017000846.1:c.2488-5C>T	XP_016856335.1:n.2488-5C>T
XM_017000847.1:c.2485-5C>T	XP_016856336.1:n.2485-5C>T
XM_017000848.1:c.2413-5C>T	XP_016856337.1:n.2413-5C>T
XM_017000849.1:c.2398-5C>T	XP_016856338.1:n.2398-5C>T
XM_017000850.1:c.2323-5C>T	XP_016856339.1:n.2323-5C>T
NM_022089.4:c.2530-5C>T MANE Select	NP_071372.1:n.2530-5C>T
NM_001141973.3:c.2515-5C>T	NP_001135445.1:n.2515-5C>T
NM_001141974.3:c.2398-5C>T	NP_001135446.1:n.2398-5C>T