Canonical Allele Identifier: CA1156031572

Gene: ATP13A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16996443T= , CM000663.2:g.16996443T=	GRCh38
NC_000001.10:g.17322938T= , CM000663.1:g.17322938T=	GRCh37
NC_000001.9:g.17195525T=	NCBI36
NG_009054.1:g.20486A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.1249A= MANE Select	ENSP00000327214.8:p.Ile417=
ENST00000326735.12:c.1249A=	ENSP00000327214.8:p.Ile417=
ENST00000341676.9:c.1234A=	ENSP00000341115.5:p.Ile412=
ENST00000452699.5:c.1234A=	ENSP00000413307.1:p.Ile412=
ENST00000463860.5:n.857A=
ENST00000502860.1:n.335-143A=
ENST00000506174.5:c.391A=	ENSP00000424393.1:p.Ile131=
ENST00000509392.1:n.252A=
ENST00000617114.4:c.335-143A=	ENSP00000478781.1:n.335-143A=
NM_001141973.2:c.1234A=	NP_001135445.1:p.Ile412=
NM_001141974.2:c.1234A=	NP_001135446.1:p.Ile412=
NM_022089.3:c.1249A=	NP_071372.1:p.Ile417=
XM_005245809.1:c.1249A=	XP_005245866.1:p.Ile417=
XM_005245810.1:c.1246A=	XP_005245867.1:p.Ile416=
XM_005245811.1:c.1234A=	XP_005245868.1:p.Ile412=
XM_005245812.1:c.1222A=	XP_005245869.1:p.Ile408=
XM_005245813.1:c.1249A=	XP_005245870.1:p.Ile417=
XM_005245815.1:c.1249A=	XP_005245872.1:p.Ile417=
XM_006710512.1:c.1231A=	XP_006710575.1:p.Ile411=
XM_006710513.1:c.1207A=	XP_006710576.1:p.Ile403=
XM_011541128.1:c.1249A=	XP_011539430.1:p.Ile417=
XM_011541129.1:c.1249A=	XP_011539431.1:p.Ile417=
XM_017000844.1:c.1249A=	XP_016856333.1:p.Ile417=
XM_017000845.1:c.1231A=	XP_016856334.1:p.Ile411=
XM_017000846.1:c.1207A=	XP_016856335.1:p.Ile403=
XM_017000847.1:c.1219A=	XP_016856336.1:p.Ile407=
XM_017000848.1:c.1249A=	XP_016856337.1:p.Ile417=
XM_017000849.1:c.1234A=	XP_016856338.1:p.Ile412=
XM_017000850.1:c.1249A=	XP_016856339.1:p.Ile417=
NM_022089.4:c.1249A= MANE Select	NP_071372.1:p.Ile417=
NM_001141973.3:c.1234A=	NP_001135445.1:p.Ile412=
NM_001141974.3:c.1234A=	NP_001135446.1:p.Ile412=