Canonical Allele Identifier: CA636405

Gene: ATP13A2

Linked Data

• ClinVar Variation Id: 293759
• ClinVar RCV Id: RCV000320573
• dbSNP Id: rs777596557
• ExAC: 1:17312473 T / G
• gnomAD v2: 1-17312473-T-G
• gnomAD v3: 1-16985978-T-G
• gnomAD v4: 1-16985978-T-G
• MyVariant Identifiers: chr1:g.17312473T>G (hg19) ; chr1:g.16985978T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16985978T>G , CM000663.2:g.16985978T>G	GRCh38
NC_000001.10:g.17312473T>G , CM000663.1:g.17312473T>G	GRCh37
NC_000001.9:g.17185060T>G	NCBI36
NG_009054.1:g.30951A>C
NG_029688.1:g.609A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.*243A>C MANE Select	ENSP00000327214.8:n.*243A>C
ENST00000326735.12:c.*243A>C	ENSP00000327214.8:n.*243A>C
ENST00000341676.9:c.*7A>C	ENSP00000341115.5:n.*7A>C
ENST00000452699.5:c.*243A>C	ENSP00000413307.1:n.*243A>C
ENST00000466561.1:n.1832A>C
NM_001141973.2:c.*243A>C	NP_001135445.1:n.*243A>C
NM_001141974.2:c.*7A>C	NP_001135446.1:n.*7A>C
NM_022089.3:c.*243A>C	NP_071372.1:n.*243A>C
XM_005245809.1:c.*7A>C	XP_005245866.1:n.*7A>C
XM_005245810.1:c.*7A>C	XP_005245867.1:n.*7A>C
XM_005245811.1:c.*7A>C	XP_005245868.1:n.*7A>C
XM_005245812.1:c.*7A>C	XP_005245869.1:n.*7A>C
XM_005245813.1:c.*7A>C	XP_005245870.1:n.*7A>C
XM_005245815.1:c.*7A>C	XP_005245872.1:n.*7A>C
XM_006710512.1:c.*7A>C	XP_006710575.1:n.*7A>C
XM_006710513.1:c.*7A>C	XP_006710576.1:n.*7A>C
XM_011541128.1:c.*7A>C	XP_011539430.1:n.*7A>C
XM_011541129.1:c.*7A>C	XP_011539431.1:n.*7A>C
XM_017000844.1:c.*243A>C	XP_016856333.1:n.*243A>C
XM_017000845.1:c.*243A>C	XP_016856334.1:n.*243A>C
XM_017000846.1:c.*243A>C	XP_016856335.1:n.*243A>C
XM_017000847.1:c.*243A>C	XP_016856336.1:n.*243A>C
XM_017000848.1:c.*243A>C	XP_016856337.1:n.*243A>C
XM_017000849.1:c.*243A>C	XP_016856338.1:n.*243A>C
XM_017000850.1:c.*243A>C	XP_016856339.1:n.*243A>C
NM_022089.4:c.*243A>C MANE Select	NP_071372.1:n.*243A>C
NM_001141973.3:c.*243A>C	NP_001135445.1:n.*243A>C
NM_001141974.3:c.*7A>C	NP_001135446.1:n.*7A>C