Canonical Allele Identifier: CA18629099

Gene: ATP13A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16989961G>A , CM000663.2:g.16989961G>A	GRCh38
NC_000001.10:g.17316456G>A , CM000663.1:g.17316456G>A	GRCh37
NC_000001.9:g.17189043G>A	NCBI36
NG_009054.1:g.26968C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022089.4:c.2455C>T MANE Select	NP_071372.1:p.Arg819Ter
ENST00000326735.13:c.2455C>T MANE Select	ENSP00000327214.8:p.Arg819Ter
NM_001141973.2:c.2440C>T	NP_001135445.1:p.Arg814Ter
NM_001141973.3:c.2440C>T	NP_001135445.1:p.Arg814Ter
NM_001141974.2:c.2397+166C>T	NP_001135446.1:n.2397+166C>T
NM_001141974.3:c.2397+166C>T	NP_001135446.1:n.2397+166C>T
NM_022089.3:c.2455C>T	NP_071372.1:p.Arg819Ter
ENST00000326735.12:c.2455C>T	ENSP00000327214.8:p.Arg819Ter
ENST00000341676.9:c.2397+166C>T	ENSP00000341115.5:n.2397+166C>T
ENST00000452699.5:c.2440C>T	ENSP00000413307.1:p.Arg814Ter
ENST00000466561.1:n.329C>T
ENST00000502418.1:c.43C>T	ENSP00000423065.1:p.Arg15Ter
XM_005245809.1:c.2455C>T	XP_005245866.1:p.Arg819Ter
XM_005245810.1:c.2452C>T	XP_005245867.1:p.Arg818Ter
XM_005245811.1:c.2440C>T	XP_005245868.1:p.Arg814Ter
XM_005245812.1:c.2428C>T	XP_005245869.1:p.Arg810Ter
XM_005245813.1:c.2395C>T	XP_005245870.1:p.Arg799Ter
XM_005245815.1:c.2412+166C>T	XP_005245872.1:n.2412+166C>T
XM_006710512.1:c.2437C>T	XP_006710575.1:p.Arg813Ter
XM_006710513.1:c.2413C>T	XP_006710576.1:p.Arg805Ter
XM_011541128.1:c.2440C>T	XP_011539430.1:p.Arg814Ter
XM_011541129.1:c.2248C>T	XP_011539431.1:p.Arg750Ter
XM_017000844.1:c.2440C>T	XP_016856333.1:p.Arg814Ter
XM_017000845.1:c.2437C>T	XP_016856334.1:p.Arg813Ter
XM_017000846.1:c.2413C>T	XP_016856335.1:p.Arg805Ter
XM_017000847.1:c.2410C>T	XP_016856336.1:p.Arg804Ter
XM_017000848.1:c.2412+166C>T	XP_016856337.1:n.2412+166C>T
XM_017000849.1:c.2397+166C>T	XP_016856338.1:n.2397+166C>T
XM_017000850.1:c.2248C>T	XP_016856339.1:p.Arg750Ter