Canonical Allele Identifier: CA338230568

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17312554A>C (hg19) ; chr1:g.16986059A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986059A>C , CM000663.2:g.16986059A>C	GRCh38
NC_000001.10:g.17312554A>C , CM000663.1:g.17312554A>C	GRCh37
NC_000001.9:g.17185141A>C	NCBI36
NG_009054.1:g.30870T>G
NG_029688.1:g.528T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.*162T>G MANE Select	ENSP00000327214.8:n.*162T>G
ENST00000326735.12:c.*162T>G	ENSP00000327214.8:n.*162T>G
ENST00000341676.9:c.3403T>G	ENSP00000341115.5:p.Tyr1135Asp
ENST00000452699.5:c.*162T>G	ENSP00000413307.1:n.*162T>G
ENST00000466561.1:n.1751T>G
ENST00000502418.1:c.1123T>G	ENSP00000423065.1:p.Tyr375Asp
NM_001141973.2:c.*162T>G	NP_001135445.1:n.*162T>G
NM_001141974.2:c.3403T>G	NP_001135446.1:p.Tyr1135Asp
NM_022089.3:c.*162T>G	NP_071372.1:n.*162T>G
XM_005245809.1:c.3535T>G	XP_005245866.1:p.Tyr1179Asp
XM_005245810.1:c.3532T>G	XP_005245867.1:p.Tyr1178Asp
XM_005245811.1:c.3520T>G	XP_005245868.1:p.Tyr1174Asp
XM_005245812.1:c.3508T>G	XP_005245869.1:p.Tyr1170Asp
XM_005245813.1:c.3475T>G	XP_005245870.1:p.Tyr1159Asp
XM_005245815.1:c.3418T>G	XP_005245872.1:p.Tyr1140Asp
XM_006710512.1:c.3517T>G	XP_006710575.1:p.Tyr1173Asp
XM_006710513.1:c.3493T>G	XP_006710576.1:p.Tyr1165Asp
XM_011541128.1:c.3520T>G	XP_011539430.1:p.Tyr1174Asp
XM_011541129.1:c.3328T>G	XP_011539431.1:p.Tyr1110Asp
XM_017000844.1:c.*162T>G	XP_016856333.1:n.*162T>G
XM_017000845.1:c.*162T>G	XP_016856334.1:n.*162T>G
XM_017000846.1:c.*162T>G	XP_016856335.1:n.*162T>G
XM_017000847.1:c.*162T>G	XP_016856336.1:n.*162T>G
XM_017000848.1:c.*162T>G	XP_016856337.1:n.*162T>G
XM_017000849.1:c.*162T>G	XP_016856338.1:n.*162T>G
XM_017000850.1:c.*162T>G	XP_016856339.1:n.*162T>G
NM_022089.4:c.*162T>G MANE Select	NP_071372.1:n.*162T>G
NM_001141973.3:c.*162T>G	NP_001135445.1:n.*162T>G
NM_001141974.3:c.3403T>G	NP_001135446.1:p.Tyr1135Asp