Canonical Allele Identifier: CA338246737

Gene: ATP13A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16992506C>A , CM000663.2:g.16992506C>A	GRCh38
NC_000001.10:g.17319001C>A , CM000663.1:g.17319001C>A	GRCh37
NC_000001.9:g.17191588C>A	NCBI36
NG_009054.1:g.24423G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022089.4:c.1825G>T MANE Select	NP_071372.1:p.Glu609Ter
ENST00000326735.13:c.1825G>T MANE Select	ENSP00000327214.8:p.Glu609Ter
NM_001141973.2:c.1810G>T	NP_001135445.1:p.Glu604Ter
NM_001141973.3:c.1810G>T	NP_001135445.1:p.Glu604Ter
NM_001141974.2:c.1810G>T	NP_001135446.1:p.Glu604Ter
NM_001141974.3:c.1810G>T	NP_001135446.1:p.Glu604Ter
NM_022089.3:c.1825G>T	NP_071372.1:p.Glu609Ter
ENST00000326735.12:c.1825G>T	ENSP00000327214.8:p.Glu609Ter
ENST00000341676.9:c.1810G>T	ENSP00000341115.5:p.Glu604Ter
ENST00000452699.5:c.1810G>T	ENSP00000413307.1:p.Glu604Ter
ENST00000503552.1:c.295G>T	ENSP00000421126.1:p.Glu99Ter
XM_005245809.1:c.1825G>T	XP_005245866.1:p.Glu609Ter
XM_005245810.1:c.1822G>T	XP_005245867.1:p.Glu608Ter
XM_005245811.1:c.1810G>T	XP_005245868.1:p.Glu604Ter
XM_005245812.1:c.1798G>T	XP_005245869.1:p.Glu600Ter
XM_005245813.1:c.1825G>T	XP_005245870.1:p.Glu609Ter
XM_005245815.1:c.1825G>T	XP_005245872.1:p.Glu609Ter
XM_006710512.1:c.1807G>T	XP_006710575.1:p.Glu603Ter
XM_006710513.1:c.1783G>T	XP_006710576.1:p.Glu595Ter
XM_011541128.1:c.1810G>T	XP_011539430.1:p.Glu604Ter
XM_011541129.1:c.1618G>T	XP_011539431.1:p.Glu540Ter
XM_017000844.1:c.1810G>T	XP_016856333.1:p.Glu604Ter
XM_017000845.1:c.1807G>T	XP_016856334.1:p.Glu603Ter
XM_017000846.1:c.1783G>T	XP_016856335.1:p.Glu595Ter
XM_017000847.1:c.1780G>T	XP_016856336.1:p.Glu594Ter
XM_017000848.1:c.1825G>T	XP_016856337.1:p.Glu609Ter
XM_017000849.1:c.1810G>T	XP_016856338.1:p.Glu604Ter
XM_017000850.1:c.1618G>T	XP_016856339.1:p.Glu540Ter