Canonical Allele Identifier: CA416093614

Gene: ATP13A2

Linked Data

• ClinVar Variation Id: 1594714
• ClinVar RCV Id: RCV002108028
• dbSNP Id: rs1170773460
• gnomAD v2: 1-17313003-C-G
• gnomAD v3: 1-16986508-C-G
• gnomAD v4: 1-16986508-C-G
• MyVariant Identifiers: chr1:g.17313003C>G (hg19) ; chr1:g.16986508C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986508C>G , CM000663.2:g.16986508C>G	GRCh38
NC_000001.10:g.17313003C>G , CM000663.1:g.17313003C>G	GRCh37
NC_000001.9:g.17185590C>G	NCBI36
NG_009054.1:g.30421G>C
NG_029688.1:g.79G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3360G>C MANE Select	ENSP00000327214.8:p.Leu1120=
ENST00000326735.12:c.3360G>C	ENSP00000327214.8:p.Leu1120=
ENST00000341676.9:c.3104-150G>C	ENSP00000341115.5:n.3104-150G>C
ENST00000452699.5:c.3345G>C	ENSP00000413307.1:p.Leu1115=
ENST00000466561.1:n.1406G>C
ENST00000502418.1:c.824-150G>C	ENSP00000423065.1:n.824-150G>C
NM_001141973.2:c.3345G>C	NP_001135445.1:p.Leu1115=
NM_001141974.2:c.3104-150G>C	NP_001135446.1:n.3104-150G>C
NM_022089.3:c.3360G>C	NP_071372.1:p.Leu1120=
XM_005245809.1:c.3236-150G>C	XP_005245866.1:n.3236-150G>C
XM_005245810.1:c.3233-150G>C	XP_005245867.1:n.3233-150G>C
XM_005245811.1:c.3221-150G>C	XP_005245868.1:n.3221-150G>C
XM_005245812.1:c.3209-150G>C	XP_005245869.1:n.3209-150G>C
XM_005245813.1:c.3176-150G>C	XP_005245870.1:n.3176-150G>C
XM_005245815.1:c.3119-150G>C	XP_005245872.1:n.3119-150G>C
XM_006710512.1:c.3218-150G>C	XP_006710575.1:n.3218-150G>C
XM_006710513.1:c.3194-150G>C	XP_006710576.1:n.3194-150G>C
XM_011541128.1:c.3221-150G>C	XP_011539430.1:n.3221-150G>C
XM_011541129.1:c.3029-150G>C	XP_011539431.1:n.3029-150G>C
XM_017000844.1:c.3345G>C	XP_016856333.1:p.Leu1115=
XM_017000845.1:c.3342G>C	XP_016856334.1:p.Leu1114=
XM_017000846.1:c.3318G>C	XP_016856335.1:p.Leu1106=
XM_017000847.1:c.3315G>C	XP_016856336.1:p.Leu1105=
XM_017000848.1:c.3243G>C	XP_016856337.1:p.Leu1081=
XM_017000849.1:c.3228G>C	XP_016856338.1:p.Leu1076=
XM_017000850.1:c.3153G>C	XP_016856339.1:p.Leu1051=
NM_022089.4:c.3360G>C MANE Select	NP_071372.1:p.Leu1120=
NM_001141973.3:c.3345G>C	NP_001135445.1:p.Leu1115=
NM_001141974.3:c.3104-150G>C	NP_001135446.1:n.3104-150G>C