Canonical Allele Identifier: CA338233821

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17313415G>C (hg19) ; chr1:g.16986920G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986920G>C , CM000663.2:g.16986920G>C	GRCh38
NC_000001.10:g.17313415G>C , CM000663.1:g.17313415G>C	GRCh37
NC_000001.9:g.17186002G>C	NCBI36
NG_009054.1:g.30009C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3120C>G MANE Select	ENSP00000327214.8:p.Asp1040Glu
ENST00000326735.12:c.3120C>G	ENSP00000327214.8:p.Asp1040Glu
ENST00000341676.9:c.2988C>G	ENSP00000341115.5:p.Asp996Glu
ENST00000452699.5:c.3105C>G	ENSP00000413307.1:p.Asp1035Glu
ENST00000466561.1:n.994C>G
ENST00000502418.1:c.708C>G	ENSP00000423065.1:p.Asp236Glu
NM_001141973.2:c.3105C>G	NP_001135445.1:p.Asp1035Glu
NM_001141974.2:c.2988C>G	NP_001135446.1:p.Asp996Glu
NM_022089.3:c.3120C>G	NP_071372.1:p.Asp1040Glu
XM_005245809.1:c.3120C>G	XP_005245866.1:p.Asp1040Glu
XM_005245810.1:c.3117C>G	XP_005245867.1:p.Asp1039Glu
XM_005245811.1:c.3105C>G	XP_005245868.1:p.Asp1035Glu
XM_005245812.1:c.3093C>G	XP_005245869.1:p.Asp1031Glu
XM_005245813.1:c.3060C>G	XP_005245870.1:p.Asp1020Glu
XM_005245815.1:c.3003C>G	XP_005245872.1:p.Asp1001Glu
XM_006710512.1:c.3102C>G	XP_006710575.1:p.Asp1034Glu
XM_006710513.1:c.3078C>G	XP_006710576.1:p.Asp1026Glu
XM_011541128.1:c.3105C>G	XP_011539430.1:p.Asp1035Glu
XM_011541129.1:c.2913C>G	XP_011539431.1:p.Asp971Glu
XM_017000844.1:c.3105C>G	XP_016856333.1:p.Asp1035Glu
XM_017000845.1:c.3102C>G	XP_016856334.1:p.Asp1034Glu
XM_017000846.1:c.3078C>G	XP_016856335.1:p.Asp1026Glu
XM_017000847.1:c.3075C>G	XP_016856336.1:p.Asp1025Glu
XM_017000848.1:c.3003C>G	XP_016856337.1:p.Asp1001Glu
XM_017000849.1:c.2988C>G	XP_016856338.1:p.Asp996Glu
XM_017000850.1:c.2913C>G	XP_016856339.1:p.Asp971Glu
NM_022089.4:c.3120C>G MANE Select	NP_071372.1:p.Asp1040Glu
NM_001141973.3:c.3105C>G	NP_001135445.1:p.Asp1035Glu
NM_001141974.3:c.2988C>G	NP_001135446.1:p.Asp996Glu