Canonical Allele Identifier: CA338231490

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17312663T>G (hg19) ; chr1:g.16986168T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986168T>G , CM000663.2:g.16986168T>G	GRCh38
NC_000001.10:g.17312663T>G , CM000663.1:g.17312663T>G	GRCh37
NC_000001.9:g.17185250T>G	NCBI36
NG_009054.1:g.30761A>C
NG_029688.1:g.419A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.*53A>C MANE Select	ENSP00000327214.8:n.*53A>C
ENST00000326735.12:c.*53A>C	ENSP00000327214.8:n.*53A>C
ENST00000341676.9:c.3294A>C	ENSP00000341115.5:p.Gln1098His
ENST00000452699.5:c.*53A>C	ENSP00000413307.1:n.*53A>C
ENST00000466561.1:n.1642A>C
ENST00000502418.1:c.1014A>C	ENSP00000423065.1:p.Gln338His
NM_001141973.2:c.*53A>C	NP_001135445.1:n.*53A>C
NM_001141974.2:c.3294A>C	NP_001135446.1:p.Gln1098His
NM_022089.3:c.*53A>C	NP_071372.1:n.*53A>C
XM_005245809.1:c.3426A>C	XP_005245866.1:p.Gln1142His
XM_005245810.1:c.3423A>C	XP_005245867.1:p.Gln1141His
XM_005245811.1:c.3411A>C	XP_005245868.1:p.Gln1137His
XM_005245812.1:c.3399A>C	XP_005245869.1:p.Gln1133His
XM_005245813.1:c.3366A>C	XP_005245870.1:p.Gln1122His
XM_005245815.1:c.3309A>C	XP_005245872.1:p.Gln1103His
XM_006710512.1:c.3408A>C	XP_006710575.1:p.Gln1136His
XM_006710513.1:c.3384A>C	XP_006710576.1:p.Gln1128His
XM_011541128.1:c.3411A>C	XP_011539430.1:p.Gln1137His
XM_011541129.1:c.3219A>C	XP_011539431.1:p.Gln1073His
XM_017000844.1:c.*53A>C	XP_016856333.1:n.*53A>C
XM_017000845.1:c.*53A>C	XP_016856334.1:n.*53A>C
XM_017000846.1:c.*53A>C	XP_016856335.1:n.*53A>C
XM_017000847.1:c.*53A>C	XP_016856336.1:n.*53A>C
XM_017000848.1:c.*53A>C	XP_016856337.1:n.*53A>C
XM_017000849.1:c.*53A>C	XP_016856338.1:n.*53A>C
XM_017000850.1:c.*53A>C	XP_016856339.1:n.*53A>C
NM_022089.4:c.*53A>C MANE Select	NP_071372.1:n.*53A>C
NM_001141973.3:c.*53A>C	NP_001135445.1:n.*53A>C
NM_001141974.3:c.3294A>C	NP_001135446.1:p.Gln1098His