Canonical Allele Identifier: CA338233902

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17313428A>T (hg19) ; chr1:g.16986933A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986933A>T , CM000663.2:g.16986933A>T	GRCh38
NC_000001.10:g.17313428A>T , CM000663.1:g.17313428A>T	GRCh37
NC_000001.9:g.17186015A>T	NCBI36
NG_009054.1:g.29996T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3107T>A MANE Select	ENSP00000327214.8:p.Val1036Glu
ENST00000326735.12:c.3107T>A	ENSP00000327214.8:p.Val1036Glu
ENST00000341676.9:c.2975T>A	ENSP00000341115.5:p.Val992Glu
ENST00000452699.5:c.3092T>A	ENSP00000413307.1:p.Val1031Glu
ENST00000466561.1:n.981T>A
ENST00000502418.1:c.695T>A	ENSP00000423065.1:p.Val232Glu
NM_001141973.2:c.3092T>A	NP_001135445.1:p.Val1031Glu
NM_001141974.2:c.2975T>A	NP_001135446.1:p.Val992Glu
NM_022089.3:c.3107T>A	NP_071372.1:p.Val1036Glu
XM_005245809.1:c.3107T>A	XP_005245866.1:p.Val1036Glu
XM_005245810.1:c.3104T>A	XP_005245867.1:p.Val1035Glu
XM_005245811.1:c.3092T>A	XP_005245868.1:p.Val1031Glu
XM_005245812.1:c.3080T>A	XP_005245869.1:p.Val1027Glu
XM_005245813.1:c.3047T>A	XP_005245870.1:p.Val1016Glu
XM_005245815.1:c.2990T>A	XP_005245872.1:p.Val997Glu
XM_006710512.1:c.3089T>A	XP_006710575.1:p.Val1030Glu
XM_006710513.1:c.3065T>A	XP_006710576.1:p.Val1022Glu
XM_011541128.1:c.3092T>A	XP_011539430.1:p.Val1031Glu
XM_011541129.1:c.2900T>A	XP_011539431.1:p.Val967Glu
XM_017000844.1:c.3092T>A	XP_016856333.1:p.Val1031Glu
XM_017000845.1:c.3089T>A	XP_016856334.1:p.Val1030Glu
XM_017000846.1:c.3065T>A	XP_016856335.1:p.Val1022Glu
XM_017000847.1:c.3062T>A	XP_016856336.1:p.Val1021Glu
XM_017000848.1:c.2990T>A	XP_016856337.1:p.Val997Glu
XM_017000849.1:c.2975T>A	XP_016856338.1:p.Val992Glu
XM_017000850.1:c.2900T>A	XP_016856339.1:p.Val967Glu
NM_022089.4:c.3107T>A MANE Select	NP_071372.1:p.Val1036Glu
NM_001141973.3:c.3092T>A	NP_001135445.1:p.Val1031Glu
NM_001141974.3:c.2975T>A	NP_001135446.1:p.Val992Glu