Canonical Allele Identifier: CA416093599

Gene: ATP13A2

Linked Data

• dbSNP Id: rs2100647368
• MyVariant Identifiers: chr1:g.17313349A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986854A>G , CM000663.2:g.16986854A>G	GRCh38
NC_000001.10:g.17313349A>G , CM000663.1:g.17313349A>G	GRCh37
NC_000001.9:g.17185936A>G	NCBI36
NG_009054.1:g.30075T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3186T>C MANE Select	ENSP00000327214.8:p.Ala1062=
ENST00000326735.12:c.3186T>C	ENSP00000327214.8:p.Ala1062=
ENST00000341676.9:c.3054T>C	ENSP00000341115.5:p.Ala1018=
ENST00000452699.5:c.3171T>C	ENSP00000413307.1:p.Ala1057=
ENST00000466561.1:n.1060T>C
ENST00000502418.1:c.774T>C	ENSP00000423065.1:p.Ala258=
NM_001141973.2:c.3171T>C	NP_001135445.1:p.Ala1057=
NM_001141974.2:c.3054T>C	NP_001135446.1:p.Ala1018=
NM_022089.3:c.3186T>C	NP_071372.1:p.Ala1062=
XM_005245809.1:c.3186T>C	XP_005245866.1:p.Ala1062=
XM_005245810.1:c.3183T>C	XP_005245867.1:p.Ala1061=
XM_005245811.1:c.3171T>C	XP_005245868.1:p.Ala1057=
XM_005245812.1:c.3159T>C	XP_005245869.1:p.Ala1053=
XM_005245813.1:c.3126T>C	XP_005245870.1:p.Ala1042=
XM_005245815.1:c.3069T>C	XP_005245872.1:p.Ala1023=
XM_006710512.1:c.3168T>C	XP_006710575.1:p.Ala1056=
XM_006710513.1:c.3144T>C	XP_006710576.1:p.Ala1048=
XM_011541128.1:c.3171T>C	XP_011539430.1:p.Ala1057=
XM_011541129.1:c.2979T>C	XP_011539431.1:p.Ala993=
XM_017000844.1:c.3171T>C	XP_016856333.1:p.Ala1057=
XM_017000845.1:c.3168T>C	XP_016856334.1:p.Ala1056=
XM_017000846.1:c.3144T>C	XP_016856335.1:p.Ala1048=
XM_017000847.1:c.3141T>C	XP_016856336.1:p.Ala1047=
XM_017000848.1:c.3069T>C	XP_016856337.1:p.Ala1023=
XM_017000849.1:c.3054T>C	XP_016856338.1:p.Ala1018=
XM_017000850.1:c.2979T>C	XP_016856339.1:p.Ala993=
NM_022089.4:c.3186T>C MANE Select	NP_071372.1:p.Ala1062=
NM_001141973.3:c.3171T>C	NP_001135445.1:p.Ala1057=
NM_001141974.3:c.3054T>C	NP_001135446.1:p.Ala1018=