Canonical Allele Identifier: CA636458

Gene: ATP13A2

Linked Data

• dbSNP Id: rs772754955
• ExAC: 1:17312731 G / C
• gnomAD v2: 1-17312731-G-C
• gnomAD v3: 1-16986236-G-C
• gnomAD v4: 1-16986236-G-C
• COSMIC: COSM4885027 ; COSM4885028
• MyVariant Identifiers: chr1:g.17312731G>C (hg19) ; chr1:g.16986236G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986236G>C , CM000663.2:g.16986236G>C	GRCh38
NC_000001.10:g.17312731G>C , CM000663.1:g.17312731G>C	GRCh37
NC_000001.9:g.17185318G>C	NCBI36
NG_009054.1:g.30693C>G
NG_029688.1:g.351C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.3528C>G MANE Select	ENSP00000327214.8:p.Ala1176=
ENST00000326735.12:c.3528C>G	ENSP00000327214.8:p.Ala1176=
ENST00000341676.9:c.3226C>G	ENSP00000341115.5:p.Arg1076Gly
ENST00000452699.5:c.3513C>G	ENSP00000413307.1:p.Ala1171=
ENST00000466561.1:n.1574C>G
ENST00000502418.1:c.946C>G	ENSP00000423065.1:p.Arg316Gly
NM_001141973.2:c.3513C>G	NP_001135445.1:p.Ala1171=
NM_001141974.2:c.3226C>G	NP_001135446.1:p.Arg1076Gly
NM_022089.3:c.3528C>G	NP_071372.1:p.Ala1176=
XM_005245809.1:c.3358C>G	XP_005245866.1:p.Arg1120Gly
XM_005245810.1:c.3355C>G	XP_005245867.1:p.Arg1119Gly
XM_005245811.1:c.3343C>G	XP_005245868.1:p.Arg1115Gly
XM_005245812.1:c.3331C>G	XP_005245869.1:p.Arg1111Gly
XM_005245813.1:c.3298C>G	XP_005245870.1:p.Arg1100Gly
XM_005245815.1:c.3241C>G	XP_005245872.1:p.Arg1081Gly
XM_006710512.1:c.3340C>G	XP_006710575.1:p.Arg1114Gly
XM_006710513.1:c.3316C>G	XP_006710576.1:p.Arg1106Gly
XM_011541128.1:c.3343C>G	XP_011539430.1:p.Arg1115Gly
XM_011541129.1:c.3151C>G	XP_011539431.1:p.Arg1051Gly
XM_017000844.1:c.3513C>G	XP_016856333.1:p.Ala1171=
XM_017000845.1:c.3510C>G	XP_016856334.1:p.Ala1170=
XM_017000846.1:c.3486C>G	XP_016856335.1:p.Ala1162=
XM_017000847.1:c.3483C>G	XP_016856336.1:p.Ala1161=
XM_017000848.1:c.3411C>G	XP_016856337.1:p.Ala1137=
XM_017000849.1:c.3396C>G	XP_016856338.1:p.Ala1132=
XM_017000850.1:c.3321C>G	XP_016856339.1:p.Ala1107=
NM_022089.4:c.3528C>G MANE Select	NP_071372.1:p.Ala1176=
NM_001141973.3:c.3513C>G	NP_001135445.1:p.Ala1171=
NM_001141974.3:c.3226C>G	NP_001135446.1:p.Arg1076Gly