Canonical Allele Identifier: CA1156049986

Gene: ATP13A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986622C= , CM000663.2:g.16986622C=	GRCh38
NC_000001.10:g.17313117C= , CM000663.1:g.17313117C=	GRCh37
NC_000001.9:g.17185704C=	NCBI36
NG_009054.1:g.30307G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.3246G= MANE Select	ENSP00000327214.8:p.Leu1082=
ENST00000326735.12:c.3246G=	ENSP00000327214.8:p.Leu1082=
ENST00000341676.9:c.3103+183G=	ENSP00000341115.5:n.3103+183G=
ENST00000452699.5:c.3231G=	ENSP00000413307.1:p.Leu1077=
ENST00000466561.1:n.1292G=
ENST00000502418.1:c.823+183G=	ENSP00000423065.1:n.823+183G=
NM_001141973.2:c.3231G=	NP_001135445.1:p.Leu1077=
NM_001141974.2:c.3103+183G=	NP_001135446.1:n.3103+183G=
NM_022089.3:c.3246G=	NP_071372.1:p.Leu1082=
XM_005245809.1:c.3235+183G=	XP_005245866.1:n.3235+183G=
XM_005245810.1:c.3232+183G=	XP_005245867.1:n.3232+183G=
XM_005245811.1:c.3220+183G=	XP_005245868.1:n.3220+183G=
XM_005245812.1:c.3208+183G=	XP_005245869.1:n.3208+183G=
XM_005245813.1:c.3175+183G=	XP_005245870.1:n.3175+183G=
XM_005245815.1:c.3118+183G=	XP_005245872.1:n.3118+183G=
XM_006710512.1:c.3217+183G=	XP_006710575.1:n.3217+183G=
XM_006710513.1:c.3193+183G=	XP_006710576.1:n.3193+183G=
XM_011541128.1:c.3220+183G=	XP_011539430.1:n.3220+183G=
XM_011541129.1:c.3028+183G=	XP_011539431.1:n.3028+183G=
XM_017000844.1:c.3231G=	XP_016856333.1:p.Leu1077=
XM_017000845.1:c.3228G=	XP_016856334.1:p.Leu1076=
XM_017000846.1:c.3204G=	XP_016856335.1:p.Leu1068=
XM_017000847.1:c.3201G=	XP_016856336.1:p.Leu1067=
XM_017000848.1:c.3129G=	XP_016856337.1:p.Leu1043=
XM_017000849.1:c.3114G=	XP_016856338.1:p.Leu1038=
XM_017000850.1:c.3039G=	XP_016856339.1:p.Leu1013=
NM_022089.4:c.3246G= MANE Select	NP_071372.1:p.Leu1082=
NM_001141973.3:c.3231G=	NP_001135445.1:p.Leu1077=
NM_001141974.3:c.3103+183G=	NP_001135446.1:n.3103+183G=