Canonical Allele Identifier: CA338239817

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17316253C>G (hg19) ; chr1:g.16989758C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16989758C>G , CM000663.2:g.16989758C>G	GRCh38
NC_000001.10:g.17316253C>G , CM000663.1:g.17316253C>G	GRCh37
NC_000001.9:g.17188840C>G	NCBI36
NG_009054.1:g.27171G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.2542G>C MANE Select	ENSP00000327214.8:p.Gly848Arg
ENST00000326735.12:c.2542G>C	ENSP00000327214.8:p.Gly848Arg
ENST00000341676.9:c.2410G>C	ENSP00000341115.5:p.Gly804Arg
ENST00000452699.5:c.2527G>C	ENSP00000413307.1:p.Gly843Arg
ENST00000466561.1:n.416G>C
ENST00000502418.1:c.130G>C	ENSP00000423065.1:p.Gly44Arg
NM_001141973.2:c.2527G>C	NP_001135445.1:p.Gly843Arg
NM_001141974.2:c.2410G>C	NP_001135446.1:p.Gly804Arg
NM_022089.3:c.2542G>C	NP_071372.1:p.Gly848Arg
XM_005245809.1:c.2542G>C	XP_005245866.1:p.Gly848Arg
XM_005245810.1:c.2539G>C	XP_005245867.1:p.Gly847Arg
XM_005245811.1:c.2527G>C	XP_005245868.1:p.Gly843Arg
XM_005245812.1:c.2515G>C	XP_005245869.1:p.Gly839Arg
XM_005245813.1:c.2482G>C	XP_005245870.1:p.Gly828Arg
XM_005245815.1:c.2425G>C	XP_005245872.1:p.Gly809Arg
XM_006710512.1:c.2524G>C	XP_006710575.1:p.Gly842Arg
XM_006710513.1:c.2500G>C	XP_006710576.1:p.Gly834Arg
XM_011541128.1:c.2527G>C	XP_011539430.1:p.Gly843Arg
XM_011541129.1:c.2335G>C	XP_011539431.1:p.Gly779Arg
XM_017000844.1:c.2527G>C	XP_016856333.1:p.Gly843Arg
XM_017000845.1:c.2524G>C	XP_016856334.1:p.Gly842Arg
XM_017000846.1:c.2500G>C	XP_016856335.1:p.Gly834Arg
XM_017000847.1:c.2497G>C	XP_016856336.1:p.Gly833Arg
XM_017000848.1:c.2425G>C	XP_016856337.1:p.Gly809Arg
XM_017000849.1:c.2410G>C	XP_016856338.1:p.Gly804Arg
XM_017000850.1:c.2335G>C	XP_016856339.1:p.Gly779Arg
NM_022089.4:c.2542G>C MANE Select	NP_071372.1:p.Gly848Arg
NM_001141973.3:c.2527G>C	NP_001135445.1:p.Gly843Arg
NM_001141974.3:c.2410G>C	NP_001135446.1:p.Gly804Arg