Canonical Allele Identifier: CA416093714

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17313114C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986619C>G , CM000663.2:g.16986619C>G	GRCh38
NC_000001.10:g.17313114C>G , CM000663.1:g.17313114C>G	GRCh37
NC_000001.9:g.17185701C>G	NCBI36
NG_009054.1:g.30310G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.3249G>C MANE Select	ENSP00000327214.8:p.Val1083=
ENST00000326735.12:c.3249G>C	ENSP00000327214.8:p.Val1083=
ENST00000341676.9:c.3103+186G>C	ENSP00000341115.5:n.3103+186G>C
ENST00000452699.5:c.3234G>C	ENSP00000413307.1:p.Val1078=
ENST00000466561.1:n.1295G>C
ENST00000502418.1:c.823+186G>C	ENSP00000423065.1:n.823+186G>C
NM_001141973.2:c.3234G>C	NP_001135445.1:p.Val1078=
NM_001141974.2:c.3103+186G>C	NP_001135446.1:n.3103+186G>C
NM_022089.3:c.3249G>C	NP_071372.1:p.Val1083=
XM_005245809.1:c.3235+186G>C	XP_005245866.1:n.3235+186G>C
XM_005245810.1:c.3232+186G>C	XP_005245867.1:n.3232+186G>C
XM_005245811.1:c.3220+186G>C	XP_005245868.1:n.3220+186G>C
XM_005245812.1:c.3208+186G>C	XP_005245869.1:n.3208+186G>C
XM_005245813.1:c.3175+186G>C	XP_005245870.1:n.3175+186G>C
XM_005245815.1:c.3118+186G>C	XP_005245872.1:n.3118+186G>C
XM_006710512.1:c.3217+186G>C	XP_006710575.1:n.3217+186G>C
XM_006710513.1:c.3193+186G>C	XP_006710576.1:n.3193+186G>C
XM_011541128.1:c.3220+186G>C	XP_011539430.1:n.3220+186G>C
XM_011541129.1:c.3028+186G>C	XP_011539431.1:n.3028+186G>C
XM_017000844.1:c.3234G>C	XP_016856333.1:p.Val1078=
XM_017000845.1:c.3231G>C	XP_016856334.1:p.Val1077=
XM_017000846.1:c.3207G>C	XP_016856335.1:p.Val1069=
XM_017000847.1:c.3204G>C	XP_016856336.1:p.Val1068=
XM_017000848.1:c.3132G>C	XP_016856337.1:p.Val1044=
XM_017000849.1:c.3117G>C	XP_016856338.1:p.Val1039=
XM_017000850.1:c.3042G>C	XP_016856339.1:p.Val1014=
NM_022089.4:c.3249G>C MANE Select	NP_071372.1:p.Val1083=
NM_001141973.3:c.3234G>C	NP_001135445.1:p.Val1078=
NM_001141974.3:c.3103+186G>C	NP_001135446.1:n.3103+186G>C