Canonical Allele Identifier: CA636439

Gene: ATP13A2

Linked Data

• dbSNP Id: rs760176443
• ExAC: 1:17312660 C / G
• gnomAD v2: 1-17312660-C-G
• gnomAD v4: 1-16986165-C-G
• MyVariant Identifiers: chr1:g.17312660C>G (hg19) ; chr1:g.16986165C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986165C>G , CM000663.2:g.16986165C>G	GRCh38
NC_000001.10:g.17312660C>G , CM000663.1:g.17312660C>G	GRCh37
NC_000001.9:g.17185247C>G	NCBI36
NG_009054.1:g.30764G>C
NG_029688.1:g.422G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.*56G>C MANE Select	ENSP00000327214.8:n.*56G>C
ENST00000326735.12:c.*56G>C	ENSP00000327214.8:n.*56G>C
ENST00000341676.9:c.3297G>C	ENSP00000341115.5:p.Leu1099=
ENST00000452699.5:c.*56G>C	ENSP00000413307.1:n.*56G>C
ENST00000466561.1:n.1645G>C
ENST00000502418.1:c.1017G>C	ENSP00000423065.1:p.Leu339=
NM_001141973.2:c.*56G>C	NP_001135445.1:n.*56G>C
NM_001141974.2:c.3297G>C	NP_001135446.1:p.Leu1099=
NM_022089.3:c.*56G>C	NP_071372.1:n.*56G>C
XM_005245809.1:c.3429G>C	XP_005245866.1:p.Leu1143=
XM_005245810.1:c.3426G>C	XP_005245867.1:p.Leu1142=
XM_005245811.1:c.3414G>C	XP_005245868.1:p.Leu1138=
XM_005245812.1:c.3402G>C	XP_005245869.1:p.Leu1134=
XM_005245813.1:c.3369G>C	XP_005245870.1:p.Leu1123=
XM_005245815.1:c.3312G>C	XP_005245872.1:p.Leu1104=
XM_006710512.1:c.3411G>C	XP_006710575.1:p.Leu1137=
XM_006710513.1:c.3387G>C	XP_006710576.1:p.Leu1129=
XM_011541128.1:c.3414G>C	XP_011539430.1:p.Leu1138=
XM_011541129.1:c.3222G>C	XP_011539431.1:p.Leu1074=
XM_017000844.1:c.*56G>C	XP_016856333.1:n.*56G>C
XM_017000845.1:c.*56G>C	XP_016856334.1:n.*56G>C
XM_017000846.1:c.*56G>C	XP_016856335.1:n.*56G>C
XM_017000847.1:c.*56G>C	XP_016856336.1:n.*56G>C
XM_017000848.1:c.*56G>C	XP_016856337.1:n.*56G>C
XM_017000849.1:c.*56G>C	XP_016856338.1:n.*56G>C
XM_017000850.1:c.*56G>C	XP_016856339.1:n.*56G>C
NM_022089.4:c.*56G>C MANE Select	NP_071372.1:n.*56G>C
NM_001141973.3:c.*56G>C	NP_001135445.1:n.*56G>C
NM_001141974.3:c.3297G>C	NP_001135446.1:p.Leu1099=