Canonical Allele Identifier: CA416093585

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17313340C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986845C>G , CM000663.2:g.16986845C>G	GRCh38
NC_000001.10:g.17313340C>G , CM000663.1:g.17313340C>G	GRCh37
NC_000001.9:g.17185927C>G	NCBI36
NG_009054.1:g.30084G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3195G>C MANE Select	ENSP00000327214.8:p.Val1065=
ENST00000326735.12:c.3195G>C	ENSP00000327214.8:p.Val1065=
ENST00000341676.9:c.3063G>C	ENSP00000341115.5:p.Val1021=
ENST00000452699.5:c.3180G>C	ENSP00000413307.1:p.Val1060=
ENST00000466561.1:n.1069G>C
ENST00000502418.1:c.783G>C	ENSP00000423065.1:p.Val261=
NM_001141973.2:c.3180G>C	NP_001135445.1:p.Val1060=
NM_001141974.2:c.3063G>C	NP_001135446.1:p.Val1021=
NM_022089.3:c.3195G>C	NP_071372.1:p.Val1065=
XM_005245809.1:c.3195G>C	XP_005245866.1:p.Val1065=
XM_005245810.1:c.3192G>C	XP_005245867.1:p.Val1064=
XM_005245811.1:c.3180G>C	XP_005245868.1:p.Val1060=
XM_005245812.1:c.3168G>C	XP_005245869.1:p.Val1056=
XM_005245813.1:c.3135G>C	XP_005245870.1:p.Val1045=
XM_005245815.1:c.3078G>C	XP_005245872.1:p.Val1026=
XM_006710512.1:c.3177G>C	XP_006710575.1:p.Val1059=
XM_006710513.1:c.3153G>C	XP_006710576.1:p.Val1051=
XM_011541128.1:c.3180G>C	XP_011539430.1:p.Val1060=
XM_011541129.1:c.2988G>C	XP_011539431.1:p.Val996=
XM_017000844.1:c.3180G>C	XP_016856333.1:p.Val1060=
XM_017000845.1:c.3177G>C	XP_016856334.1:p.Val1059=
XM_017000846.1:c.3153G>C	XP_016856335.1:p.Val1051=
XM_017000847.1:c.3150G>C	XP_016856336.1:p.Val1050=
XM_017000848.1:c.3078G>C	XP_016856337.1:p.Val1026=
XM_017000849.1:c.3063G>C	XP_016856338.1:p.Val1021=
XM_017000850.1:c.2988G>C	XP_016856339.1:p.Val996=
NM_022089.4:c.3195G>C MANE Select	NP_071372.1:p.Val1065=
NM_001141973.3:c.3180G>C	NP_001135445.1:p.Val1060=
NM_001141974.3:c.3063G>C	NP_001135446.1:p.Val1021=