Canonical Allele Identifier: CA338230553

Gene: ATP13A2

Linked Data

• dbSNP Id: rs1412871896
• gnomAD v3: 1-16986056-A-G
• gnomAD v4: 1-16986056-A-G
• MyVariant Identifiers: chr1:g.17312551A>G (hg19) ; chr1:g.16986056A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986056A>G , CM000663.2:g.16986056A>G	GRCh38
NC_000001.10:g.17312551A>G , CM000663.1:g.17312551A>G	GRCh37
NC_000001.9:g.17185138A>G	NCBI36
NG_009054.1:g.30873T>C
NG_029688.1:g.531T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.*165T>C MANE Select	ENSP00000327214.8:n.*165T>C
ENST00000326735.12:c.*165T>C	ENSP00000327214.8:n.*165T>C
ENST00000341676.9:c.3406T>C	ENSP00000341115.5:p.Cys1136Arg
ENST00000452699.5:c.*165T>C	ENSP00000413307.1:n.*165T>C
ENST00000466561.1:n.1754T>C
ENST00000502418.1:c.1126T>C	ENSP00000423065.1:p.Cys376Arg
NM_001141973.2:c.*165T>C	NP_001135445.1:n.*165T>C
NM_001141974.2:c.3406T>C	NP_001135446.1:p.Cys1136Arg
NM_022089.3:c.*165T>C	NP_071372.1:n.*165T>C
XM_005245809.1:c.3538T>C	XP_005245866.1:p.Cys1180Arg
XM_005245810.1:c.3535T>C	XP_005245867.1:p.Cys1179Arg
XM_005245811.1:c.3523T>C	XP_005245868.1:p.Cys1175Arg
XM_005245812.1:c.3511T>C	XP_005245869.1:p.Cys1171Arg
XM_005245813.1:c.3478T>C	XP_005245870.1:p.Cys1160Arg
XM_005245815.1:c.3421T>C	XP_005245872.1:p.Cys1141Arg
XM_006710512.1:c.3520T>C	XP_006710575.1:p.Cys1174Arg
XM_006710513.1:c.3496T>C	XP_006710576.1:p.Cys1166Arg
XM_011541128.1:c.3523T>C	XP_011539430.1:p.Cys1175Arg
XM_011541129.1:c.3331T>C	XP_011539431.1:p.Cys1111Arg
XM_017000844.1:c.*165T>C	XP_016856333.1:n.*165T>C
XM_017000845.1:c.*165T>C	XP_016856334.1:n.*165T>C
XM_017000846.1:c.*165T>C	XP_016856335.1:n.*165T>C
XM_017000847.1:c.*165T>C	XP_016856336.1:n.*165T>C
XM_017000848.1:c.*165T>C	XP_016856337.1:n.*165T>C
XM_017000849.1:c.*165T>C	XP_016856338.1:n.*165T>C
XM_017000850.1:c.*165T>C	XP_016856339.1:n.*165T>C
NM_022089.4:c.*165T>C MANE Select	NP_071372.1:n.*165T>C
NM_001141973.3:c.*165T>C	NP_001135445.1:n.*165T>C
NM_001141974.3:c.3406T>C	NP_001135446.1:p.Cys1136Arg