Canonical Allele Identifier: CA636800

Gene: ATP13A2

Linked Data

• dbSNP Id: rs778854959
• ExAC: 1:17316341 G / T
• gnomAD v2: 1-17316341-G-T
• gnomAD v3: 1-16989846-G-T
• gnomAD v4: 1-16989846-G-T
• MyVariant Identifiers: chr1:g.17316341G>T (hg19) ; chr1:g.16989846G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16989846G>T , CM000663.2:g.16989846G>T	GRCh38
NC_000001.10:g.17316341G>T , CM000663.1:g.17316341G>T	GRCh37
NC_000001.9:g.17188928G>T	NCBI36
NG_009054.1:g.27083C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.2529+41C>A MANE Select	ENSP00000327214.8:n.2529+41C>A
ENST00000326735.12:c.2529+41C>A	ENSP00000327214.8:n.2529+41C>A
ENST00000341676.9:c.2398-76C>A	ENSP00000341115.5:n.2398-76C>A
ENST00000452699.5:c.2514+41C>A	ENSP00000413307.1:n.2514+41C>A
ENST00000466561.1:n.403+41C>A
ENST00000502418.1:c.117+41C>A	ENSP00000423065.1:n.117+41C>A
NM_001141973.2:c.2514+41C>A	NP_001135445.1:n.2514+41C>A
NM_001141974.2:c.2398-76C>A	NP_001135446.1:n.2398-76C>A
NM_022089.3:c.2529+41C>A	NP_071372.1:n.2529+41C>A
XM_005245809.1:c.2529+41C>A	XP_005245866.1:n.2529+41C>A
XM_005245810.1:c.2526+41C>A	XP_005245867.1:n.2526+41C>A
XM_005245811.1:c.2514+41C>A	XP_005245868.1:n.2514+41C>A
XM_005245812.1:c.2502+41C>A	XP_005245869.1:n.2502+41C>A
XM_005245813.1:c.2469+41C>A	XP_005245870.1:n.2469+41C>A
XM_005245815.1:c.2413-76C>A	XP_005245872.1:n.2413-76C>A
XM_006710512.1:c.2511+41C>A	XP_006710575.1:n.2511+41C>A
XM_006710513.1:c.2487+41C>A	XP_006710576.1:n.2487+41C>A
XM_011541128.1:c.2514+41C>A	XP_011539430.1:n.2514+41C>A
XM_011541129.1:c.2322+41C>A	XP_011539431.1:n.2322+41C>A
XM_017000844.1:c.2514+41C>A	XP_016856333.1:n.2514+41C>A
XM_017000845.1:c.2511+41C>A	XP_016856334.1:n.2511+41C>A
XM_017000846.1:c.2487+41C>A	XP_016856335.1:n.2487+41C>A
XM_017000847.1:c.2484+41C>A	XP_016856336.1:n.2484+41C>A
XM_017000848.1:c.2413-76C>A	XP_016856337.1:n.2413-76C>A
XM_017000849.1:c.2398-76C>A	XP_016856338.1:n.2398-76C>A
XM_017000850.1:c.2322+41C>A	XP_016856339.1:n.2322+41C>A
NM_022089.4:c.2529+41C>A MANE Select	NP_071372.1:n.2529+41C>A
NM_001141973.3:c.2514+41C>A	NP_001135445.1:n.2514+41C>A
NM_001141974.3:c.2398-76C>A	NP_001135446.1:n.2398-76C>A