Canonical Allele Identifier: CA636471

Gene: ATP13A2

Linked Data

• dbSNP Id: rs771098093
• ExAC: 1:17312776 C / G
• gnomAD v2: 1-17312776-C-G
• gnomAD v4: 1-16986281-C-G
• MyVariant Identifiers: chr1:g.17312776C>G (hg19) ; chr1:g.16986281C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986281C>G , CM000663.2:g.16986281C>G	GRCh38
NC_000001.10:g.17312776C>G , CM000663.1:g.17312776C>G	GRCh37
NC_000001.9:g.17185363C>G	NCBI36
NG_009054.1:g.30648G>C
NG_029688.1:g.306G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3483G>C MANE Select	ENSP00000327214.8:p.Gln1161His
ENST00000326735.12:c.3483G>C	ENSP00000327214.8:p.Gln1161His
ENST00000341676.9:c.3181G>C	ENSP00000341115.5:p.Ala1061Pro
ENST00000452699.5:c.3468G>C	ENSP00000413307.1:p.Gln1156His
ENST00000466561.1:n.1529G>C
ENST00000502418.1:c.901G>C	ENSP00000423065.1:p.Ala301Pro
NM_001141973.2:c.3468G>C	NP_001135445.1:p.Gln1156His
NM_001141974.2:c.3181G>C	NP_001135446.1:p.Ala1061Pro
NM_022089.3:c.3483G>C	NP_071372.1:p.Gln1161His
XM_005245809.1:c.3313G>C	XP_005245866.1:p.Ala1105Pro
XM_005245810.1:c.3310G>C	XP_005245867.1:p.Ala1104Pro
XM_005245811.1:c.3298G>C	XP_005245868.1:p.Ala1100Pro
XM_005245812.1:c.3286G>C	XP_005245869.1:p.Ala1096Pro
XM_005245813.1:c.3253G>C	XP_005245870.1:p.Ala1085Pro
XM_005245815.1:c.3196G>C	XP_005245872.1:p.Ala1066Pro
XM_006710512.1:c.3295G>C	XP_006710575.1:p.Ala1099Pro
XM_006710513.1:c.3271G>C	XP_006710576.1:p.Ala1091Pro
XM_011541128.1:c.3298G>C	XP_011539430.1:p.Ala1100Pro
XM_011541129.1:c.3106G>C	XP_011539431.1:p.Ala1036Pro
XM_017000844.1:c.3468G>C	XP_016856333.1:p.Gln1156His
XM_017000845.1:c.3465G>C	XP_016856334.1:p.Gln1155His
XM_017000846.1:c.3441G>C	XP_016856335.1:p.Gln1147His
XM_017000847.1:c.3438G>C	XP_016856336.1:p.Gln1146His
XM_017000848.1:c.3366G>C	XP_016856337.1:p.Gln1122His
XM_017000849.1:c.3351G>C	XP_016856338.1:p.Gln1117His
XM_017000850.1:c.3276G>C	XP_016856339.1:p.Gln1092His
NM_022089.4:c.3483G>C MANE Select	NP_071372.1:p.Gln1161His
NM_001141973.3:c.3468G>C	NP_001135445.1:p.Gln1156His
NM_001141974.3:c.3181G>C	NP_001135446.1:p.Ala1061Pro