Canonical Allele Identifier: CA338231443

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17312658T>A (hg19) ; chr1:g.16986163T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986163T>A , CM000663.2:g.16986163T>A	GRCh38
NC_000001.10:g.17312658T>A , CM000663.1:g.17312658T>A	GRCh37
NC_000001.9:g.17185245T>A	NCBI36
NG_009054.1:g.30766A>T
NG_029688.1:g.424A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.*58A>T MANE Select	ENSP00000327214.8:n.*58A>T
ENST00000326735.12:c.*58A>T	ENSP00000327214.8:n.*58A>T
ENST00000341676.9:c.3299A>T	ENSP00000341115.5:p.Asp1100Val
ENST00000452699.5:c.*58A>T	ENSP00000413307.1:n.*58A>T
ENST00000466561.1:n.1647A>T
ENST00000502418.1:c.1019A>T	ENSP00000423065.1:p.Asp340Val
NM_001141973.2:c.*58A>T	NP_001135445.1:n.*58A>T
NM_001141974.2:c.3299A>T	NP_001135446.1:p.Asp1100Val
NM_022089.3:c.*58A>T	NP_071372.1:n.*58A>T
XM_005245809.1:c.3431A>T	XP_005245866.1:p.Asp1144Val
XM_005245810.1:c.3428A>T	XP_005245867.1:p.Asp1143Val
XM_005245811.1:c.3416A>T	XP_005245868.1:p.Asp1139Val
XM_005245812.1:c.3404A>T	XP_005245869.1:p.Asp1135Val
XM_005245813.1:c.3371A>T	XP_005245870.1:p.Asp1124Val
XM_005245815.1:c.3314A>T	XP_005245872.1:p.Asp1105Val
XM_006710512.1:c.3413A>T	XP_006710575.1:p.Asp1138Val
XM_006710513.1:c.3389A>T	XP_006710576.1:p.Asp1130Val
XM_011541128.1:c.3416A>T	XP_011539430.1:p.Asp1139Val
XM_011541129.1:c.3224A>T	XP_011539431.1:p.Asp1075Val
XM_017000844.1:c.*58A>T	XP_016856333.1:n.*58A>T
XM_017000845.1:c.*58A>T	XP_016856334.1:n.*58A>T
XM_017000846.1:c.*58A>T	XP_016856335.1:n.*58A>T
XM_017000847.1:c.*58A>T	XP_016856336.1:n.*58A>T
XM_017000848.1:c.*58A>T	XP_016856337.1:n.*58A>T
XM_017000849.1:c.*58A>T	XP_016856338.1:n.*58A>T
XM_017000850.1:c.*58A>T	XP_016856339.1:n.*58A>T
NM_022089.4:c.*58A>T MANE Select	NP_071372.1:n.*58A>T
NM_001141973.3:c.*58A>T	NP_001135445.1:n.*58A>T
NM_001141974.3:c.3299A>T	NP_001135446.1:p.Asp1100Val