Canonical Allele Identifier: CA416093558

Gene: ATP13A2

Linked Data

• dbSNP Id: rs1474433966
• gnomAD v2: 1-17313316-C-G
• gnomAD v4: 1-16986821-C-G
• MyVariant Identifiers: chr1:g.17313316C>G (hg19) ; chr1:g.16986821C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986821C>G , CM000663.2:g.16986821C>G	GRCh38
NC_000001.10:g.17313316C>G , CM000663.1:g.17313316C>G	GRCh37
NC_000001.9:g.17185903C>G	NCBI36
NG_009054.1:g.30108G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3219G>C MANE Select	ENSP00000327214.8:p.Arg1073=
ENST00000326735.12:c.3219G>C	ENSP00000327214.8:p.Arg1073=
ENST00000341676.9:c.3087G>C	ENSP00000341115.5:p.Arg1029=
ENST00000452699.5:c.3204G>C	ENSP00000413307.1:p.Arg1068=
ENST00000466561.1:n.1093G>C
ENST00000502418.1:c.807G>C	ENSP00000423065.1:p.Arg269=
NM_001141973.2:c.3204G>C	NP_001135445.1:p.Arg1068=
NM_001141974.2:c.3087G>C	NP_001135446.1:p.Arg1029=
NM_022089.3:c.3219G>C	NP_071372.1:p.Arg1073=
XM_005245809.1:c.3219G>C	XP_005245866.1:p.Arg1073=
XM_005245810.1:c.3216G>C	XP_005245867.1:p.Arg1072=
XM_005245811.1:c.3204G>C	XP_005245868.1:p.Arg1068=
XM_005245812.1:c.3192G>C	XP_005245869.1:p.Arg1064=
XM_005245813.1:c.3159G>C	XP_005245870.1:p.Arg1053=
XM_005245815.1:c.3102G>C	XP_005245872.1:p.Arg1034=
XM_006710512.1:c.3201G>C	XP_006710575.1:p.Arg1067=
XM_006710513.1:c.3177G>C	XP_006710576.1:p.Arg1059=
XM_011541128.1:c.3204G>C	XP_011539430.1:p.Arg1068=
XM_011541129.1:c.3012G>C	XP_011539431.1:p.Arg1004=
XM_017000844.1:c.3204G>C	XP_016856333.1:p.Arg1068=
XM_017000845.1:c.3201G>C	XP_016856334.1:p.Arg1067=
XM_017000846.1:c.3177G>C	XP_016856335.1:p.Arg1059=
XM_017000847.1:c.3174G>C	XP_016856336.1:p.Arg1058=
XM_017000848.1:c.3102G>C	XP_016856337.1:p.Arg1034=
XM_017000849.1:c.3087G>C	XP_016856338.1:p.Arg1029=
XM_017000850.1:c.3012G>C	XP_016856339.1:p.Arg1004=
NM_022089.4:c.3219G>C MANE Select	NP_071372.1:p.Arg1073=
NM_001141973.3:c.3204G>C	NP_001135445.1:p.Arg1068=
NM_001141974.3:c.3087G>C	NP_001135446.1:p.Arg1029=