Canonical Allele Identifier: CA338231360

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17312643G>C (hg19) ; chr1:g.16986148G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986148G>C , CM000663.2:g.16986148G>C	GRCh38
NC_000001.10:g.17312643G>C , CM000663.1:g.17312643G>C	GRCh37
NC_000001.9:g.17185230G>C	NCBI36
NG_009054.1:g.30781C>G
NG_029688.1:g.439C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.*73C>G MANE Select	ENSP00000327214.8:n.*73C>G
ENST00000326735.12:c.*73C>G	ENSP00000327214.8:n.*73C>G
ENST00000341676.9:c.3314C>G	ENSP00000341115.5:p.Thr1105Arg
ENST00000452699.5:c.*73C>G	ENSP00000413307.1:n.*73C>G
ENST00000466561.1:n.1662C>G
ENST00000502418.1:c.1034C>G	ENSP00000423065.1:p.Thr345Arg
NM_001141973.2:c.*73C>G	NP_001135445.1:n.*73C>G
NM_001141974.2:c.3314C>G	NP_001135446.1:p.Thr1105Arg
NM_022089.3:c.*73C>G	NP_071372.1:n.*73C>G
XM_005245809.1:c.3446C>G	XP_005245866.1:p.Thr1149Arg
XM_005245810.1:c.3443C>G	XP_005245867.1:p.Thr1148Arg
XM_005245811.1:c.3431C>G	XP_005245868.1:p.Thr1144Arg
XM_005245812.1:c.3419C>G	XP_005245869.1:p.Thr1140Arg
XM_005245813.1:c.3386C>G	XP_005245870.1:p.Thr1129Arg
XM_005245815.1:c.3329C>G	XP_005245872.1:p.Thr1110Arg
XM_006710512.1:c.3428C>G	XP_006710575.1:p.Thr1143Arg
XM_006710513.1:c.3404C>G	XP_006710576.1:p.Thr1135Arg
XM_011541128.1:c.3431C>G	XP_011539430.1:p.Thr1144Arg
XM_011541129.1:c.3239C>G	XP_011539431.1:p.Thr1080Arg
XM_017000844.1:c.*73C>G	XP_016856333.1:n.*73C>G
XM_017000845.1:c.*73C>G	XP_016856334.1:n.*73C>G
XM_017000846.1:c.*73C>G	XP_016856335.1:n.*73C>G
XM_017000847.1:c.*73C>G	XP_016856336.1:n.*73C>G
XM_017000848.1:c.*73C>G	XP_016856337.1:n.*73C>G
XM_017000849.1:c.*73C>G	XP_016856338.1:n.*73C>G
XM_017000850.1:c.*73C>G	XP_016856339.1:n.*73C>G
NM_022089.4:c.*73C>G MANE Select	NP_071372.1:n.*73C>G
NM_001141973.3:c.*73C>G	NP_001135445.1:n.*73C>G
NM_001141974.3:c.3314C>G	NP_001135446.1:p.Thr1105Arg