Canonical Allele Identifier: CA338231974

Gene: ATP13A2

Linked Data

• ClinVar Variation Id: 2481158
• ClinVar RCV Id: RCV003199516
• dbSNP Id: rs1227408529
• gnomAD v2: 1-17312732-G-C
• gnomAD v4: 1-16986237-G-C
• MyVariant Identifiers: chr1:g.17312732G>C (hg19) ; chr1:g.16986237G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986237G>C , CM000663.2:g.16986237G>C	GRCh38
NC_000001.10:g.17312732G>C , CM000663.1:g.17312732G>C	GRCh37
NC_000001.9:g.17185319G>C	NCBI36
NG_009054.1:g.30692C>G
NG_029688.1:g.350C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.3527C>G MANE Select	ENSP00000327214.8:p.Ala1176Gly
ENST00000326735.12:c.3527C>G	ENSP00000327214.8:p.Ala1176Gly
ENST00000341676.9:c.3225C>G	ENSP00000341115.5:p.Arg1075=
ENST00000452699.5:c.3512C>G	ENSP00000413307.1:p.Ala1171Gly
ENST00000466561.1:n.1573C>G
ENST00000502418.1:c.945C>G	ENSP00000423065.1:p.Arg315=
NM_001141973.2:c.3512C>G	NP_001135445.1:p.Ala1171Gly
NM_001141974.2:c.3225C>G	NP_001135446.1:p.Arg1075=
NM_022089.3:c.3527C>G	NP_071372.1:p.Ala1176Gly
XM_005245809.1:c.3357C>G	XP_005245866.1:p.Arg1119=
XM_005245810.1:c.3354C>G	XP_005245867.1:p.Arg1118=
XM_005245811.1:c.3342C>G	XP_005245868.1:p.Arg1114=
XM_005245812.1:c.3330C>G	XP_005245869.1:p.Arg1110=
XM_005245813.1:c.3297C>G	XP_005245870.1:p.Arg1099=
XM_005245815.1:c.3240C>G	XP_005245872.1:p.Arg1080=
XM_006710512.1:c.3339C>G	XP_006710575.1:p.Arg1113=
XM_006710513.1:c.3315C>G	XP_006710576.1:p.Arg1105=
XM_011541128.1:c.3342C>G	XP_011539430.1:p.Arg1114=
XM_011541129.1:c.3150C>G	XP_011539431.1:p.Arg1050=
XM_017000844.1:c.3512C>G	XP_016856333.1:p.Ala1171Gly
XM_017000845.1:c.3509C>G	XP_016856334.1:p.Ala1170Gly
XM_017000846.1:c.3485C>G	XP_016856335.1:p.Ala1162Gly
XM_017000847.1:c.3482C>G	XP_016856336.1:p.Ala1161Gly
XM_017000848.1:c.3410C>G	XP_016856337.1:p.Ala1137Gly
XM_017000849.1:c.3395C>G	XP_016856338.1:p.Ala1132Gly
XM_017000850.1:c.3320C>G	XP_016856339.1:p.Ala1107Gly
NM_022089.4:c.3527C>G MANE Select	NP_071372.1:p.Ala1176Gly
NM_001141973.3:c.3512C>G	NP_001135445.1:p.Ala1171Gly
NM_001141974.3:c.3225C>G	NP_001135446.1:p.Arg1075=