Canonical Allele Identifier: CA338233677

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17313395T>C (hg19) ; chr1:g.16986900T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986900T>C , CM000663.2:g.16986900T>C	GRCh38
NC_000001.10:g.17313395T>C , CM000663.1:g.17313395T>C	GRCh37
NC_000001.9:g.17185982T>C	NCBI36
NG_009054.1:g.30029A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.3140A>G MANE Select	ENSP00000327214.8:p.Asn1047Ser
ENST00000326735.12:c.3140A>G	ENSP00000327214.8:p.Asn1047Ser
ENST00000341676.9:c.3008A>G	ENSP00000341115.5:p.Asn1003Ser
ENST00000452699.5:c.3125A>G	ENSP00000413307.1:p.Asn1042Ser
ENST00000466561.1:n.1014A>G
ENST00000502418.1:c.728A>G	ENSP00000423065.1:p.Asn243Ser
NM_001141973.2:c.3125A>G	NP_001135445.1:p.Asn1042Ser
NM_001141974.2:c.3008A>G	NP_001135446.1:p.Asn1003Ser
NM_022089.3:c.3140A>G	NP_071372.1:p.Asn1047Ser
XM_005245809.1:c.3140A>G	XP_005245866.1:p.Asn1047Ser
XM_005245810.1:c.3137A>G	XP_005245867.1:p.Asn1046Ser
XM_005245811.1:c.3125A>G	XP_005245868.1:p.Asn1042Ser
XM_005245812.1:c.3113A>G	XP_005245869.1:p.Asn1038Ser
XM_005245813.1:c.3080A>G	XP_005245870.1:p.Asn1027Ser
XM_005245815.1:c.3023A>G	XP_005245872.1:p.Asn1008Ser
XM_006710512.1:c.3122A>G	XP_006710575.1:p.Asn1041Ser
XM_006710513.1:c.3098A>G	XP_006710576.1:p.Asn1033Ser
XM_011541128.1:c.3125A>G	XP_011539430.1:p.Asn1042Ser
XM_011541129.1:c.2933A>G	XP_011539431.1:p.Asn978Ser
XM_017000844.1:c.3125A>G	XP_016856333.1:p.Asn1042Ser
XM_017000845.1:c.3122A>G	XP_016856334.1:p.Asn1041Ser
XM_017000846.1:c.3098A>G	XP_016856335.1:p.Asn1033Ser
XM_017000847.1:c.3095A>G	XP_016856336.1:p.Asn1032Ser
XM_017000848.1:c.3023A>G	XP_016856337.1:p.Asn1008Ser
XM_017000849.1:c.3008A>G	XP_016856338.1:p.Asn1003Ser
XM_017000850.1:c.2933A>G	XP_016856339.1:p.Asn978Ser
NM_022089.4:c.3140A>G MANE Select	NP_071372.1:p.Asn1047Ser
NM_001141973.3:c.3125A>G	NP_001135445.1:p.Asn1042Ser
NM_001141974.3:c.3008A>G	NP_001135446.1:p.Asn1003Ser