Canonical Allele Identifier: CA338233781

Gene: ATP13A2

Linked Data

• ClinVar Variation Id: 2231307
• ClinVar RCV Id: RCV002707989
• dbSNP Id: rs1313746036
• gnomAD v2: 1-17313408-G-C
• gnomAD v3: 1-16986913-G-C
• gnomAD v4: 1-16986913-G-C
• MyVariant Identifiers: chr1:g.17313408G>C (hg19) ; chr1:g.16986913G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986913G>C , CM000663.2:g.16986913G>C	GRCh38
NC_000001.10:g.17313408G>C , CM000663.1:g.17313408G>C	GRCh37
NC_000001.9:g.17185995G>C	NCBI36
NG_009054.1:g.30016C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3127C>G MANE Select	ENSP00000327214.8:p.Pro1043Ala
ENST00000326735.12:c.3127C>G	ENSP00000327214.8:p.Pro1043Ala
ENST00000341676.9:c.2995C>G	ENSP00000341115.5:p.Pro999Ala
ENST00000452699.5:c.3112C>G	ENSP00000413307.1:p.Pro1038Ala
ENST00000466561.1:n.1001C>G
ENST00000502418.1:c.715C>G	ENSP00000423065.1:p.Pro239Ala
NM_001141973.2:c.3112C>G	NP_001135445.1:p.Pro1038Ala
NM_001141974.2:c.2995C>G	NP_001135446.1:p.Pro999Ala
NM_022089.3:c.3127C>G	NP_071372.1:p.Pro1043Ala
XM_005245809.1:c.3127C>G	XP_005245866.1:p.Pro1043Ala
XM_005245810.1:c.3124C>G	XP_005245867.1:p.Pro1042Ala
XM_005245811.1:c.3112C>G	XP_005245868.1:p.Pro1038Ala
XM_005245812.1:c.3100C>G	XP_005245869.1:p.Pro1034Ala
XM_005245813.1:c.3067C>G	XP_005245870.1:p.Pro1023Ala
XM_005245815.1:c.3010C>G	XP_005245872.1:p.Pro1004Ala
XM_006710512.1:c.3109C>G	XP_006710575.1:p.Pro1037Ala
XM_006710513.1:c.3085C>G	XP_006710576.1:p.Pro1029Ala
XM_011541128.1:c.3112C>G	XP_011539430.1:p.Pro1038Ala
XM_011541129.1:c.2920C>G	XP_011539431.1:p.Pro974Ala
XM_017000844.1:c.3112C>G	XP_016856333.1:p.Pro1038Ala
XM_017000845.1:c.3109C>G	XP_016856334.1:p.Pro1037Ala
XM_017000846.1:c.3085C>G	XP_016856335.1:p.Pro1029Ala
XM_017000847.1:c.3082C>G	XP_016856336.1:p.Pro1028Ala
XM_017000848.1:c.3010C>G	XP_016856337.1:p.Pro1004Ala
XM_017000849.1:c.2995C>G	XP_016856338.1:p.Pro999Ala
XM_017000850.1:c.2920C>G	XP_016856339.1:p.Pro974Ala
NM_022089.4:c.3127C>G MANE Select	NP_071372.1:p.Pro1043Ala
NM_001141973.3:c.3112C>G	NP_001135445.1:p.Pro1038Ala
NM_001141974.3:c.2995C>G	NP_001135446.1:p.Pro999Ala