Canonical Allele Identifier: CA416093577

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17313334C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986839C>T , CM000663.2:g.16986839C>T	GRCh38
NC_000001.10:g.17313334C>T , CM000663.1:g.17313334C>T	GRCh37
NC_000001.9:g.17185921C>T	NCBI36
NG_009054.1:g.30090G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3201G>A MANE Select	ENSP00000327214.8:p.Lys1067=
ENST00000326735.12:c.3201G>A	ENSP00000327214.8:p.Lys1067=
ENST00000341676.9:c.3069G>A	ENSP00000341115.5:p.Lys1023=
ENST00000452699.5:c.3186G>A	ENSP00000413307.1:p.Lys1062=
ENST00000466561.1:n.1075G>A
ENST00000502418.1:c.789G>A	ENSP00000423065.1:p.Lys263=
NM_001141973.2:c.3186G>A	NP_001135445.1:p.Lys1062=
NM_001141974.2:c.3069G>A	NP_001135446.1:p.Lys1023=
NM_022089.3:c.3201G>A	NP_071372.1:p.Lys1067=
XM_005245809.1:c.3201G>A	XP_005245866.1:p.Lys1067=
XM_005245810.1:c.3198G>A	XP_005245867.1:p.Lys1066=
XM_005245811.1:c.3186G>A	XP_005245868.1:p.Lys1062=
XM_005245812.1:c.3174G>A	XP_005245869.1:p.Lys1058=
XM_005245813.1:c.3141G>A	XP_005245870.1:p.Lys1047=
XM_005245815.1:c.3084G>A	XP_005245872.1:p.Lys1028=
XM_006710512.1:c.3183G>A	XP_006710575.1:p.Lys1061=
XM_006710513.1:c.3159G>A	XP_006710576.1:p.Lys1053=
XM_011541128.1:c.3186G>A	XP_011539430.1:p.Lys1062=
XM_011541129.1:c.2994G>A	XP_011539431.1:p.Lys998=
XM_017000844.1:c.3186G>A	XP_016856333.1:p.Lys1062=
XM_017000845.1:c.3183G>A	XP_016856334.1:p.Lys1061=
XM_017000846.1:c.3159G>A	XP_016856335.1:p.Lys1053=
XM_017000847.1:c.3156G>A	XP_016856336.1:p.Lys1052=
XM_017000848.1:c.3084G>A	XP_016856337.1:p.Lys1028=
XM_017000849.1:c.3069G>A	XP_016856338.1:p.Lys1023=
XM_017000850.1:c.2994G>A	XP_016856339.1:p.Lys998=
NM_022089.4:c.3201G>A MANE Select	NP_071372.1:p.Lys1067=
NM_001141973.3:c.3186G>A	NP_001135445.1:p.Lys1062=
NM_001141974.3:c.3069G>A	NP_001135446.1:p.Lys1023=