Canonical Allele Identifier: CA636475

Gene: ATP13A2

Linked Data

• dbSNP Id: rs776147612
• ExAC: 1:17312793 T / C
• gnomAD v3: 1-16986298-T-C
• gnomAD v4: 1-16986298-T-C
• MyVariant Identifiers: chr1:g.17312793T>C (hg19) ; chr1:g.16986298T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986298T>C , CM000663.2:g.16986298T>C	GRCh38
NC_000001.10:g.17312793T>C , CM000663.1:g.17312793T>C	GRCh37
NC_000001.9:g.17185380T>C	NCBI36
NG_009054.1:g.30631A>G
NG_029688.1:g.289A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3466A>G MANE Select	ENSP00000327214.8:p.Lys1156Glu
ENST00000326735.12:c.3466A>G	ENSP00000327214.8:p.Lys1156Glu
ENST00000341676.9:c.3164A>G	ENSP00000341115.5:p.Gln1055Arg
ENST00000452699.5:c.3451A>G	ENSP00000413307.1:p.Lys1151Glu
ENST00000466561.1:n.1512A>G
ENST00000502418.1:c.884A>G	ENSP00000423065.1:p.Gln295Arg
NM_001141973.2:c.3451A>G	NP_001135445.1:p.Lys1151Glu
NM_001141974.2:c.3164A>G	NP_001135446.1:p.Gln1055Arg
NM_022089.3:c.3466A>G	NP_071372.1:p.Lys1156Glu
XM_005245809.1:c.3296A>G	XP_005245866.1:p.Gln1099Arg
XM_005245810.1:c.3293A>G	XP_005245867.1:p.Gln1098Arg
XM_005245811.1:c.3281A>G	XP_005245868.1:p.Gln1094Arg
XM_005245812.1:c.3269A>G	XP_005245869.1:p.Gln1090Arg
XM_005245813.1:c.3236A>G	XP_005245870.1:p.Gln1079Arg
XM_005245815.1:c.3179A>G	XP_005245872.1:p.Gln1060Arg
XM_006710512.1:c.3278A>G	XP_006710575.1:p.Gln1093Arg
XM_006710513.1:c.3254A>G	XP_006710576.1:p.Gln1085Arg
XM_011541128.1:c.3281A>G	XP_011539430.1:p.Gln1094Arg
XM_011541129.1:c.3089A>G	XP_011539431.1:p.Gln1030Arg
XM_017000844.1:c.3451A>G	XP_016856333.1:p.Lys1151Glu
XM_017000845.1:c.3448A>G	XP_016856334.1:p.Lys1150Glu
XM_017000846.1:c.3424A>G	XP_016856335.1:p.Lys1142Glu
XM_017000847.1:c.3421A>G	XP_016856336.1:p.Lys1141Glu
XM_017000848.1:c.3349A>G	XP_016856337.1:p.Lys1117Glu
XM_017000849.1:c.3334A>G	XP_016856338.1:p.Lys1112Glu
XM_017000850.1:c.3259A>G	XP_016856339.1:p.Lys1087Glu
NM_022089.4:c.3466A>G MANE Select	NP_071372.1:p.Lys1156Glu
NM_001141973.3:c.3451A>G	NP_001135445.1:p.Lys1151Glu
NM_001141974.3:c.3164A>G	NP_001135446.1:p.Gln1055Arg