Canonical Allele Identifier: CA637203

Gene: ATP13A2

Linked Data

• ClinVar Variation Id: 293789
• ClinVar RCV Id: RCV000333655 ; RCV000874247 ; RCV003409442
• dbSNP Id: rs750600448
• ExAC: 1:17322564 G / A
• gnomAD v2: 1-17322564-G-A
• gnomAD v3: 1-16996069-G-A
• gnomAD v4: 1-16996069-G-A
• COSMIC: COSM5572681 ; COSM5572682
• MyVariant Identifiers: chr1:g.17322564G>A (hg19) ; chr1:g.16996069G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16996069G>A , CM000663.2:g.16996069G>A	GRCh38
NC_000001.10:g.17322564G>A , CM000663.1:g.17322564G>A	GRCh37
NC_000001.9:g.17195151G>A	NCBI36
NG_009054.1:g.20860C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.1449C>T MANE Select	ENSP00000327214.8:p.Tyr483=
ENST00000326735.12:c.1449C>T	ENSP00000327214.8:p.Tyr483=
ENST00000341676.9:c.1434C>T	ENSP00000341115.5:p.Tyr478=
ENST00000452699.5:c.1434C>T	ENSP00000413307.1:p.Tyr478=
ENST00000463860.5:n.1057C>T
ENST00000502860.1:n.477C>T
ENST00000503552.1:c.126C>T	ENSP00000421126.1:p.Tyr42=
ENST00000509392.1:n.537C>T
ENST00000617114.4:c.477C>T	ENSP00000478781.1:p.Tyr159=
NM_001141973.2:c.1434C>T	NP_001135445.1:p.Tyr478=
NM_001141974.2:c.1434C>T	NP_001135446.1:p.Tyr478=
NM_022089.3:c.1449C>T	NP_071372.1:p.Tyr483=
XM_005245809.1:c.1449C>T	XP_005245866.1:p.Tyr483=
XM_005245810.1:c.1446C>T	XP_005245867.1:p.Tyr482=
XM_005245811.1:c.1434C>T	XP_005245868.1:p.Tyr478=
XM_005245812.1:c.1422C>T	XP_005245869.1:p.Tyr474=
XM_005245813.1:c.1449C>T	XP_005245870.1:p.Tyr483=
XM_005245815.1:c.1449C>T	XP_005245872.1:p.Tyr483=
XM_006710512.1:c.1431C>T	XP_006710575.1:p.Tyr477=
XM_006710513.1:c.1407C>T	XP_006710576.1:p.Tyr469=
XM_011541128.1:c.1449C>T	XP_011539430.1:p.Tyr483=
XM_011541129.1:c.1449C>T	XP_011539431.1:p.Tyr483=
XM_017000844.1:c.1449C>T	XP_016856333.1:p.Tyr483=
XM_017000845.1:c.1431C>T	XP_016856334.1:p.Tyr477=
XM_017000846.1:c.1407C>T	XP_016856335.1:p.Tyr469=
XM_017000847.1:c.1419C>T	XP_016856336.1:p.Tyr473=
XM_017000848.1:c.1449C>T	XP_016856337.1:p.Tyr483=
XM_017000849.1:c.1434C>T	XP_016856338.1:p.Tyr478=
XM_017000850.1:c.1449C>T	XP_016856339.1:p.Tyr483=
NM_022089.4:c.1449C>T MANE Select	NP_071372.1:p.Tyr483=
NM_001141973.3:c.1434C>T	NP_001135445.1:p.Tyr478=
NM_001141974.3:c.1434C>T	NP_001135446.1:p.Tyr478=