Canonical Allele Identifier: CA338233151

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17313096G>C (hg19) ; chr1:g.16986601G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986601G>C , CM000663.2:g.16986601G>C	GRCh38
NC_000001.10:g.17313096G>C , CM000663.1:g.17313096G>C	GRCh37
NC_000001.9:g.17185683G>C	NCBI36
NG_009054.1:g.30328C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3267C>G MANE Select	ENSP00000327214.8:p.Ser1089Arg
ENST00000326735.12:c.3267C>G	ENSP00000327214.8:p.Ser1089Arg
ENST00000341676.9:c.3103+204C>G	ENSP00000341115.5:n.3103+204C>G
ENST00000452699.5:c.3252C>G	ENSP00000413307.1:p.Ser1084Arg
ENST00000466561.1:n.1313C>G
ENST00000502418.1:c.823+204C>G	ENSP00000423065.1:n.823+204C>G
NM_001141973.2:c.3252C>G	NP_001135445.1:p.Ser1084Arg
NM_001141974.2:c.3103+204C>G	NP_001135446.1:n.3103+204C>G
NM_022089.3:c.3267C>G	NP_071372.1:p.Ser1089Arg
XM_005245809.1:c.3235+204C>G	XP_005245866.1:n.3235+204C>G
XM_005245810.1:c.3232+204C>G	XP_005245867.1:n.3232+204C>G
XM_005245811.1:c.3220+204C>G	XP_005245868.1:n.3220+204C>G
XM_005245812.1:c.3208+204C>G	XP_005245869.1:n.3208+204C>G
XM_005245813.1:c.3175+204C>G	XP_005245870.1:n.3175+204C>G
XM_005245815.1:c.3118+204C>G	XP_005245872.1:n.3118+204C>G
XM_006710512.1:c.3217+204C>G	XP_006710575.1:n.3217+204C>G
XM_006710513.1:c.3193+204C>G	XP_006710576.1:n.3193+204C>G
XM_011541128.1:c.3220+204C>G	XP_011539430.1:n.3220+204C>G
XM_011541129.1:c.3028+204C>G	XP_011539431.1:n.3028+204C>G
XM_017000844.1:c.3252C>G	XP_016856333.1:p.Ser1084Arg
XM_017000845.1:c.3249C>G	XP_016856334.1:p.Ser1083Arg
XM_017000846.1:c.3225C>G	XP_016856335.1:p.Ser1075Arg
XM_017000847.1:c.3222C>G	XP_016856336.1:p.Ser1074Arg
XM_017000848.1:c.3150C>G	XP_016856337.1:p.Ser1050Arg
XM_017000849.1:c.3135C>G	XP_016856338.1:p.Ser1045Arg
XM_017000850.1:c.3060C>G	XP_016856339.1:p.Ser1020Arg
NM_022089.4:c.3267C>G MANE Select	NP_071372.1:p.Ser1089Arg
NM_001141973.3:c.3252C>G	NP_001135445.1:p.Ser1084Arg
NM_001141974.3:c.3103+204C>G	NP_001135446.1:n.3103+204C>G