Canonical Allele Identifier: CA636902

Gene: ATP13A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16990298T>C , CM000663.2:g.16990298T>C	GRCh38
NC_000001.10:g.17316793T>C , CM000663.1:g.17316793T>C	GRCh37
NC_000001.9:g.17189380T>C	NCBI36
NG_009054.1:g.26631A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_022089.4:c.2252-11A>G MANE Select	NP_071372.1:n.2252-11A>G
ENST00000326735.13:c.2252-11A>G MANE Select	ENSP00000327214.8:n.2252-11A>G
NM_001141973.2:c.2237-11A>G	NP_001135445.1:n.2237-11A>G
NM_001141973.3:c.2237-11A>G	NP_001135445.1:n.2237-11A>G
NM_001141974.2:c.2237-11A>G	NP_001135446.1:n.2237-11A>G
NM_001141974.3:c.2237-11A>G	NP_001135446.1:n.2237-11A>G
NM_022089.3:c.2252-11A>G	NP_071372.1:n.2252-11A>G
ENST00000326735.12:c.2252-11A>G	ENSP00000327214.8:n.2252-11A>G
ENST00000341676.9:c.2237-11A>G	ENSP00000341115.5:n.2237-11A>G
ENST00000452699.5:c.2237-11A>G	ENSP00000413307.1:n.2237-11A>G
ENST00000466561.1:n.126-11A>G
ENST00000503552.1:c.662-11A>G	ENSP00000421126.1:n.662-11A>G
XM_005245809.1:c.2252-11A>G	XP_005245866.1:n.2252-11A>G
XM_005245810.1:c.2249-11A>G	XP_005245867.1:n.2249-11A>G
XM_005245811.1:c.2237-11A>G	XP_005245868.1:n.2237-11A>G
XM_005245812.1:c.2225-11A>G	XP_005245869.1:n.2225-11A>G
XM_005245813.1:c.2192-11A>G	XP_005245870.1:n.2192-11A>G
XM_005245815.1:c.2252-11A>G	XP_005245872.1:n.2252-11A>G
XM_006710512.1:c.2234-11A>G	XP_006710575.1:n.2234-11A>G
XM_006710513.1:c.2210-11A>G	XP_006710576.1:n.2210-11A>G
XM_011541128.1:c.2237-11A>G	XP_011539430.1:n.2237-11A>G
XM_011541129.1:c.2045-11A>G	XP_011539431.1:n.2045-11A>G
XM_017000844.1:c.2237-11A>G	XP_016856333.1:n.2237-11A>G
XM_017000845.1:c.2234-11A>G	XP_016856334.1:n.2234-11A>G
XM_017000846.1:c.2210-11A>G	XP_016856335.1:n.2210-11A>G
XM_017000847.1:c.2207-11A>G	XP_016856336.1:n.2207-11A>G
XM_017000848.1:c.2252-11A>G	XP_016856337.1:n.2252-11A>G
XM_017000849.1:c.2237-11A>G	XP_016856338.1:n.2237-11A>G
XM_017000850.1:c.2045-11A>G	XP_016856339.1:n.2045-11A>G