Canonical Allele Identifier: CA338252594

Gene: ATP13A2

Linked Data

• gnomAD v4: 1-16996104-C-A
• MyVariant Identifiers: chr1:g.17322599C>A (hg19) ; chr1:g.16996104C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16996104C>A , CM000663.2:g.16996104C>A	GRCh38
NC_000001.10:g.17322599C>A , CM000663.1:g.17322599C>A	GRCh37
NC_000001.9:g.17195186C>A	NCBI36
NG_009054.1:g.20825G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.1414G>T MANE Select	ENSP00000327214.8:p.Ala472Ser
ENST00000326735.12:c.1414G>T	ENSP00000327214.8:p.Ala472Ser
ENST00000341676.9:c.1399G>T	ENSP00000341115.5:p.Ala467Ser
ENST00000452699.5:c.1399G>T	ENSP00000413307.1:p.Ala467Ser
ENST00000463860.5:n.1022G>T
ENST00000502860.1:n.442G>T
ENST00000503552.1:c.91G>T	ENSP00000421126.1:p.Ala31Ser
ENST00000506174.5:c.556G>T	ENSP00000424393.1:p.Ala186Ser
ENST00000509392.1:n.502G>T
ENST00000617114.4:c.442G>T	ENSP00000478781.1:p.Ala148Ser
NM_001141973.2:c.1399G>T	NP_001135445.1:p.Ala467Ser
NM_001141974.2:c.1399G>T	NP_001135446.1:p.Ala467Ser
NM_022089.3:c.1414G>T	NP_071372.1:p.Ala472Ser
XM_005245809.1:c.1414G>T	XP_005245866.1:p.Ala472Ser
XM_005245810.1:c.1411G>T	XP_005245867.1:p.Ala471Ser
XM_005245811.1:c.1399G>T	XP_005245868.1:p.Ala467Ser
XM_005245812.1:c.1387G>T	XP_005245869.1:p.Ala463Ser
XM_005245813.1:c.1414G>T	XP_005245870.1:p.Ala472Ser
XM_005245815.1:c.1414G>T	XP_005245872.1:p.Ala472Ser
XM_006710512.1:c.1396G>T	XP_006710575.1:p.Ala466Ser
XM_006710513.1:c.1372G>T	XP_006710576.1:p.Ala458Ser
XM_011541128.1:c.1414G>T	XP_011539430.1:p.Ala472Ser
XM_011541129.1:c.1414G>T	XP_011539431.1:p.Ala472Ser
XM_017000844.1:c.1414G>T	XP_016856333.1:p.Ala472Ser
XM_017000845.1:c.1396G>T	XP_016856334.1:p.Ala466Ser
XM_017000846.1:c.1372G>T	XP_016856335.1:p.Ala458Ser
XM_017000847.1:c.1384G>T	XP_016856336.1:p.Ala462Ser
XM_017000848.1:c.1414G>T	XP_016856337.1:p.Ala472Ser
XM_017000849.1:c.1399G>T	XP_016856338.1:p.Ala467Ser
XM_017000850.1:c.1414G>T	XP_016856339.1:p.Ala472Ser
NM_022089.4:c.1414G>T MANE Select	NP_071372.1:p.Ala472Ser
NM_001141973.3:c.1399G>T	NP_001135445.1:p.Ala467Ser
NM_001141974.3:c.1399G>T	NP_001135446.1:p.Ala467Ser