Canonical Allele Identifier: CA338233891

Gene: ATP13A2

Linked Data

• dbSNP Id: rs2100649485
• MyVariant Identifiers: chr1:g.17313426C>G (hg19) ; chr1:g.16986931C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986931C>G , CM000663.2:g.16986931C>G	GRCh38
NC_000001.10:g.17313426C>G , CM000663.1:g.17313426C>G	GRCh37
NC_000001.9:g.17186013C>G	NCBI36
NG_009054.1:g.29998G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3109G>C MANE Select	ENSP00000327214.8:p.Ala1037Pro
ENST00000326735.12:c.3109G>C	ENSP00000327214.8:p.Ala1037Pro
ENST00000341676.9:c.2977G>C	ENSP00000341115.5:p.Ala993Pro
ENST00000452699.5:c.3094G>C	ENSP00000413307.1:p.Ala1032Pro
ENST00000466561.1:n.983G>C
ENST00000502418.1:c.697G>C	ENSP00000423065.1:p.Ala233Pro
NM_001141973.2:c.3094G>C	NP_001135445.1:p.Ala1032Pro
NM_001141974.2:c.2977G>C	NP_001135446.1:p.Ala993Pro
NM_022089.3:c.3109G>C	NP_071372.1:p.Ala1037Pro
XM_005245809.1:c.3109G>C	XP_005245866.1:p.Ala1037Pro
XM_005245810.1:c.3106G>C	XP_005245867.1:p.Ala1036Pro
XM_005245811.1:c.3094G>C	XP_005245868.1:p.Ala1032Pro
XM_005245812.1:c.3082G>C	XP_005245869.1:p.Ala1028Pro
XM_005245813.1:c.3049G>C	XP_005245870.1:p.Ala1017Pro
XM_005245815.1:c.2992G>C	XP_005245872.1:p.Ala998Pro
XM_006710512.1:c.3091G>C	XP_006710575.1:p.Ala1031Pro
XM_006710513.1:c.3067G>C	XP_006710576.1:p.Ala1023Pro
XM_011541128.1:c.3094G>C	XP_011539430.1:p.Ala1032Pro
XM_011541129.1:c.2902G>C	XP_011539431.1:p.Ala968Pro
XM_017000844.1:c.3094G>C	XP_016856333.1:p.Ala1032Pro
XM_017000845.1:c.3091G>C	XP_016856334.1:p.Ala1031Pro
XM_017000846.1:c.3067G>C	XP_016856335.1:p.Ala1023Pro
XM_017000847.1:c.3064G>C	XP_016856336.1:p.Ala1022Pro
XM_017000848.1:c.2992G>C	XP_016856337.1:p.Ala998Pro
XM_017000849.1:c.2977G>C	XP_016856338.1:p.Ala993Pro
XM_017000850.1:c.2902G>C	XP_016856339.1:p.Ala968Pro
NM_022089.4:c.3109G>C MANE Select	NP_071372.1:p.Ala1037Pro
NM_001141973.3:c.3094G>C	NP_001135445.1:p.Ala1032Pro
NM_001141974.3:c.2977G>C	NP_001135446.1:p.Ala993Pro