Canonical Allele Identifier: CA338233729

Gene: ATP13A2

Linked Data

• dbSNP Id: rs2076752282
• MyVariant Identifiers: chr1:g.17313401T>C (hg19) ; chr1:g.16986906T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986906T>C , CM000663.2:g.16986906T>C	GRCh38
NC_000001.10:g.17313401T>C , CM000663.1:g.17313401T>C	GRCh37
NC_000001.9:g.17185988T>C	NCBI36
NG_009054.1:g.30023A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.3134A>G MANE Select	ENSP00000327214.8:p.Tyr1045Cys
ENST00000326735.12:c.3134A>G	ENSP00000327214.8:p.Tyr1045Cys
ENST00000341676.9:c.3002A>G	ENSP00000341115.5:p.Tyr1001Cys
ENST00000452699.5:c.3119A>G	ENSP00000413307.1:p.Tyr1040Cys
ENST00000466561.1:n.1008A>G
ENST00000502418.1:c.722A>G	ENSP00000423065.1:p.Tyr241Cys
NM_001141973.2:c.3119A>G	NP_001135445.1:p.Tyr1040Cys
NM_001141974.2:c.3002A>G	NP_001135446.1:p.Tyr1001Cys
NM_022089.3:c.3134A>G	NP_071372.1:p.Tyr1045Cys
XM_005245809.1:c.3134A>G	XP_005245866.1:p.Tyr1045Cys
XM_005245810.1:c.3131A>G	XP_005245867.1:p.Tyr1044Cys
XM_005245811.1:c.3119A>G	XP_005245868.1:p.Tyr1040Cys
XM_005245812.1:c.3107A>G	XP_005245869.1:p.Tyr1036Cys
XM_005245813.1:c.3074A>G	XP_005245870.1:p.Tyr1025Cys
XM_005245815.1:c.3017A>G	XP_005245872.1:p.Tyr1006Cys
XM_006710512.1:c.3116A>G	XP_006710575.1:p.Tyr1039Cys
XM_006710513.1:c.3092A>G	XP_006710576.1:p.Tyr1031Cys
XM_011541128.1:c.3119A>G	XP_011539430.1:p.Tyr1040Cys
XM_011541129.1:c.2927A>G	XP_011539431.1:p.Tyr976Cys
XM_017000844.1:c.3119A>G	XP_016856333.1:p.Tyr1040Cys
XM_017000845.1:c.3116A>G	XP_016856334.1:p.Tyr1039Cys
XM_017000846.1:c.3092A>G	XP_016856335.1:p.Tyr1031Cys
XM_017000847.1:c.3089A>G	XP_016856336.1:p.Tyr1030Cys
XM_017000848.1:c.3017A>G	XP_016856337.1:p.Tyr1006Cys
XM_017000849.1:c.3002A>G	XP_016856338.1:p.Tyr1001Cys
XM_017000850.1:c.2927A>G	XP_016856339.1:p.Tyr976Cys
NM_022089.4:c.3134A>G MANE Select	NP_071372.1:p.Tyr1045Cys
NM_001141973.3:c.3119A>G	NP_001135445.1:p.Tyr1040Cys
NM_001141974.3:c.3002A>G	NP_001135446.1:p.Tyr1001Cys