Canonical Allele Identifier: CA338232130

Gene: ATP13A2

Linked Data

• dbSNP Id: rs2076715535
• MyVariant Identifiers: chr1:g.17312753T>C (hg19) ; chr1:g.16986258T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986258T>C , CM000663.2:g.16986258T>C	GRCh38
NC_000001.10:g.17312753T>C , CM000663.1:g.17312753T>C	GRCh37
NC_000001.9:g.17185340T>C	NCBI36
NG_009054.1:g.30671A>G
NG_029688.1:g.329A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3506A>G MANE Select	ENSP00000327214.8:p.Gln1169Arg
ENST00000326735.12:c.3506A>G	ENSP00000327214.8:p.Gln1169Arg
ENST00000341676.9:c.3204A>G	ENSP00000341115.5:p.Ala1068=
ENST00000452699.5:c.3491A>G	ENSP00000413307.1:p.Gln1164Arg
ENST00000466561.1:n.1552A>G
ENST00000502418.1:c.924A>G	ENSP00000423065.1:p.Ala308=
NM_001141973.2:c.3491A>G	NP_001135445.1:p.Gln1164Arg
NM_001141974.2:c.3204A>G	NP_001135446.1:p.Ala1068=
NM_022089.3:c.3506A>G	NP_071372.1:p.Gln1169Arg
XM_005245809.1:c.3336A>G	XP_005245866.1:p.Ala1112=
XM_005245810.1:c.3333A>G	XP_005245867.1:p.Ala1111=
XM_005245811.1:c.3321A>G	XP_005245868.1:p.Ala1107=
XM_005245812.1:c.3309A>G	XP_005245869.1:p.Ala1103=
XM_005245813.1:c.3276A>G	XP_005245870.1:p.Ala1092=
XM_005245815.1:c.3219A>G	XP_005245872.1:p.Ala1073=
XM_006710512.1:c.3318A>G	XP_006710575.1:p.Ala1106=
XM_006710513.1:c.3294A>G	XP_006710576.1:p.Ala1098=
XM_011541128.1:c.3321A>G	XP_011539430.1:p.Ala1107=
XM_011541129.1:c.3129A>G	XP_011539431.1:p.Ala1043=
XM_017000844.1:c.3491A>G	XP_016856333.1:p.Gln1164Arg
XM_017000845.1:c.3488A>G	XP_016856334.1:p.Gln1163Arg
XM_017000846.1:c.3464A>G	XP_016856335.1:p.Gln1155Arg
XM_017000847.1:c.3461A>G	XP_016856336.1:p.Gln1154Arg
XM_017000848.1:c.3389A>G	XP_016856337.1:p.Gln1130Arg
XM_017000849.1:c.3374A>G	XP_016856338.1:p.Gln1125Arg
XM_017000850.1:c.3299A>G	XP_016856339.1:p.Gln1100Arg
NM_022089.4:c.3506A>G MANE Select	NP_071372.1:p.Gln1169Arg
NM_001141973.3:c.3491A>G	NP_001135445.1:p.Gln1164Arg
NM_001141974.3:c.3204A>G	NP_001135446.1:p.Ala1068=