Canonical Allele Identifier: CA637316

Gene: ATP13A2

Linked Data

• ClinVar Variation Id: 588172
• ClinVar RCV Id: RCV002316090 ; RCV002477656
• dbSNP Id: rs377186549
• ExAC: 1:17322985 C / T
• gnomAD v2: 1-17322985-C-T
• gnomAD v3: 1-16996490-C-T
• gnomAD v4: 1-16996490-C-T
• MyVariant Identifiers: chr1:g.17322985C>T (hg19) ; chr1:g.16996490C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16996490C>T , CM000663.2:g.16996490C>T	GRCh38
NC_000001.10:g.17322985C>T , CM000663.1:g.17322985C>T	GRCh37
NC_000001.9:g.17195572C>T	NCBI36
NG_009054.1:g.20439G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.1202G>A MANE Select	ENSP00000327214.8:p.Cys401Tyr
ENST00000326735.12:c.1202G>A	ENSP00000327214.8:p.Cys401Tyr
ENST00000341676.9:c.1187G>A	ENSP00000341115.5:p.Cys396Tyr
ENST00000452699.5:c.1187G>A	ENSP00000413307.1:p.Cys396Tyr
ENST00000463860.5:n.810G>A
ENST00000502860.1:n.335-190G>A
ENST00000506174.5:c.356-12G>A	ENSP00000424393.1:n.356-12G>A
ENST00000509392.1:n.205G>A
ENST00000617114.4:c.335-190G>A	ENSP00000478781.1:n.335-190G>A
NM_001141973.2:c.1187G>A	NP_001135445.1:p.Cys396Tyr
NM_001141974.2:c.1187G>A	NP_001135446.1:p.Cys396Tyr
NM_022089.3:c.1202G>A	NP_071372.1:p.Cys401Tyr
XM_005245809.1:c.1202G>A	XP_005245866.1:p.Cys401Tyr
XM_005245810.1:c.1199G>A	XP_005245867.1:p.Cys400Tyr
XM_005245811.1:c.1187G>A	XP_005245868.1:p.Cys396Tyr
XM_005245812.1:c.1175G>A	XP_005245869.1:p.Cys392Tyr
XM_005245813.1:c.1202G>A	XP_005245870.1:p.Cys401Tyr
XM_005245815.1:c.1202G>A	XP_005245872.1:p.Cys401Tyr
XM_006710512.1:c.1184G>A	XP_006710575.1:p.Cys395Tyr
XM_006710513.1:c.1160G>A	XP_006710576.1:p.Cys387Tyr
XM_011541128.1:c.1202G>A	XP_011539430.1:p.Cys401Tyr
XM_011541129.1:c.1202G>A	XP_011539431.1:p.Cys401Tyr
XM_017000844.1:c.1202G>A	XP_016856333.1:p.Cys401Tyr
XM_017000845.1:c.1184G>A	XP_016856334.1:p.Cys395Tyr
XM_017000846.1:c.1160G>A	XP_016856335.1:p.Cys387Tyr
XM_017000847.1:c.1172G>A	XP_016856336.1:p.Cys391Tyr
XM_017000848.1:c.1202G>A	XP_016856337.1:p.Cys401Tyr
XM_017000849.1:c.1187G>A	XP_016856338.1:p.Cys396Tyr
XM_017000850.1:c.1202G>A	XP_016856339.1:p.Cys401Tyr
NM_022089.4:c.1202G>A MANE Select	NP_071372.1:p.Cys401Tyr
NM_001141973.3:c.1187G>A	NP_001135445.1:p.Cys396Tyr
NM_001141974.3:c.1187G>A	NP_001135446.1:p.Cys396Tyr