Canonical Allele Identifier: CA338252359

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17322571G>C (hg19) ; chr1:g.16996076G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16996076G>C , CM000663.2:g.16996076G>C	GRCh38
NC_000001.10:g.17322571G>C , CM000663.1:g.17322571G>C	GRCh37
NC_000001.9:g.17195158G>C	NCBI36
NG_009054.1:g.20853C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.1442C>G MANE Select	ENSP00000327214.8:p.Thr481Arg
ENST00000326735.12:c.1442C>G	ENSP00000327214.8:p.Thr481Arg
ENST00000341676.9:c.1427C>G	ENSP00000341115.5:p.Thr476Arg
ENST00000452699.5:c.1427C>G	ENSP00000413307.1:p.Thr476Arg
ENST00000463860.5:n.1050C>G
ENST00000502860.1:n.470C>G
ENST00000503552.1:c.119C>G	ENSP00000421126.1:p.Thr40Arg
ENST00000509392.1:n.530C>G
ENST00000617114.4:c.470C>G	ENSP00000478781.1:p.Thr157Arg
NM_001141973.2:c.1427C>G	NP_001135445.1:p.Thr476Arg
NM_001141974.2:c.1427C>G	NP_001135446.1:p.Thr476Arg
NM_022089.3:c.1442C>G	NP_071372.1:p.Thr481Arg
XM_005245809.1:c.1442C>G	XP_005245866.1:p.Thr481Arg
XM_005245810.1:c.1439C>G	XP_005245867.1:p.Thr480Arg
XM_005245811.1:c.1427C>G	XP_005245868.1:p.Thr476Arg
XM_005245812.1:c.1415C>G	XP_005245869.1:p.Thr472Arg
XM_005245813.1:c.1442C>G	XP_005245870.1:p.Thr481Arg
XM_005245815.1:c.1442C>G	XP_005245872.1:p.Thr481Arg
XM_006710512.1:c.1424C>G	XP_006710575.1:p.Thr475Arg
XM_006710513.1:c.1400C>G	XP_006710576.1:p.Thr467Arg
XM_011541128.1:c.1442C>G	XP_011539430.1:p.Thr481Arg
XM_011541129.1:c.1442C>G	XP_011539431.1:p.Thr481Arg
XM_017000844.1:c.1442C>G	XP_016856333.1:p.Thr481Arg
XM_017000845.1:c.1424C>G	XP_016856334.1:p.Thr475Arg
XM_017000846.1:c.1400C>G	XP_016856335.1:p.Thr467Arg
XM_017000847.1:c.1412C>G	XP_016856336.1:p.Thr471Arg
XM_017000848.1:c.1442C>G	XP_016856337.1:p.Thr481Arg
XM_017000849.1:c.1427C>G	XP_016856338.1:p.Thr476Arg
XM_017000850.1:c.1442C>G	XP_016856339.1:p.Thr481Arg
NM_022089.4:c.1442C>G MANE Select	NP_071372.1:p.Thr481Arg
NM_001141973.3:c.1427C>G	NP_001135445.1:p.Thr476Arg
NM_001141974.3:c.1427C>G	NP_001135446.1:p.Thr476Arg