Canonical Allele Identifier: CA338230682

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17312577G>T (hg19) ; chr1:g.16986082G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986082G>T , CM000663.2:g.16986082G>T	GRCh38
NC_000001.10:g.17312577G>T , CM000663.1:g.17312577G>T	GRCh37
NC_000001.9:g.17185164G>T	NCBI36
NG_009054.1:g.30847C>A
NG_029688.1:g.505C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.*139C>A MANE Select	ENSP00000327214.8:n.*139C>A
ENST00000326735.12:c.*139C>A	ENSP00000327214.8:n.*139C>A
ENST00000341676.9:c.3380C>A	ENSP00000341115.5:p.Pro1127His
ENST00000452699.5:c.*139C>A	ENSP00000413307.1:n.*139C>A
ENST00000466561.1:n.1728C>A
ENST00000502418.1:c.1100C>A	ENSP00000423065.1:p.Pro367His
NM_001141973.2:c.*139C>A	NP_001135445.1:n.*139C>A
NM_001141974.2:c.3380C>A	NP_001135446.1:p.Pro1127His
NM_022089.3:c.*139C>A	NP_071372.1:n.*139C>A
XM_005245809.1:c.3512C>A	XP_005245866.1:p.Pro1171His
XM_005245810.1:c.3509C>A	XP_005245867.1:p.Pro1170His
XM_005245811.1:c.3497C>A	XP_005245868.1:p.Pro1166His
XM_005245812.1:c.3485C>A	XP_005245869.1:p.Pro1162His
XM_005245813.1:c.3452C>A	XP_005245870.1:p.Pro1151His
XM_005245815.1:c.3395C>A	XP_005245872.1:p.Pro1132His
XM_006710512.1:c.3494C>A	XP_006710575.1:p.Pro1165His
XM_006710513.1:c.3470C>A	XP_006710576.1:p.Pro1157His
XM_011541128.1:c.3497C>A	XP_011539430.1:p.Pro1166His
XM_011541129.1:c.3305C>A	XP_011539431.1:p.Pro1102His
XM_017000844.1:c.*139C>A	XP_016856333.1:n.*139C>A
XM_017000845.1:c.*139C>A	XP_016856334.1:n.*139C>A
XM_017000846.1:c.*139C>A	XP_016856335.1:n.*139C>A
XM_017000847.1:c.*139C>A	XP_016856336.1:n.*139C>A
XM_017000848.1:c.*139C>A	XP_016856337.1:n.*139C>A
XM_017000849.1:c.*139C>A	XP_016856338.1:n.*139C>A
XM_017000850.1:c.*139C>A	XP_016856339.1:n.*139C>A
NM_022089.4:c.*139C>A MANE Select	NP_071372.1:n.*139C>A
NM_001141973.3:c.*139C>A	NP_001135445.1:n.*139C>A
NM_001141974.3:c.3380C>A	NP_001135446.1:p.Pro1127His