Canonical Allele Identifier: CA338232502

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17312829C>A (hg19) ; chr1:g.16986334C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986334C>A , CM000663.2:g.16986334C>A	GRCh38
NC_000001.10:g.17312829C>A , CM000663.1:g.17312829C>A	GRCh37
NC_000001.9:g.17185416C>A	NCBI36
NG_009054.1:g.30595G>T
NG_029688.1:g.253G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.3430G>T MANE Select	ENSP00000327214.8:p.Ala1144Ser
ENST00000326735.12:c.3430G>T	ENSP00000327214.8:p.Ala1144Ser
ENST00000341676.9:c.3128G>T	ENSP00000341115.5:p.Arg1043Leu
ENST00000452699.5:c.3415G>T	ENSP00000413307.1:p.Ala1139Ser
ENST00000466561.1:n.1476G>T
ENST00000502418.1:c.848G>T	ENSP00000423065.1:p.Arg283Leu
NM_001141973.2:c.3415G>T	NP_001135445.1:p.Ala1139Ser
NM_001141974.2:c.3128G>T	NP_001135446.1:p.Arg1043Leu
NM_022089.3:c.3430G>T	NP_071372.1:p.Ala1144Ser
XM_005245809.1:c.3260G>T	XP_005245866.1:p.Arg1087Leu
XM_005245810.1:c.3257G>T	XP_005245867.1:p.Arg1086Leu
XM_005245811.1:c.3245G>T	XP_005245868.1:p.Arg1082Leu
XM_005245812.1:c.3233G>T	XP_005245869.1:p.Arg1078Leu
XM_005245813.1:c.3200G>T	XP_005245870.1:p.Arg1067Leu
XM_005245815.1:c.3143G>T	XP_005245872.1:p.Arg1048Leu
XM_006710512.1:c.3242G>T	XP_006710575.1:p.Arg1081Leu
XM_006710513.1:c.3218G>T	XP_006710576.1:p.Arg1073Leu
XM_011541128.1:c.3245G>T	XP_011539430.1:p.Arg1082Leu
XM_011541129.1:c.3053G>T	XP_011539431.1:p.Arg1018Leu
XM_017000844.1:c.3415G>T	XP_016856333.1:p.Ala1139Ser
XM_017000845.1:c.3412G>T	XP_016856334.1:p.Ala1138Ser
XM_017000846.1:c.3388G>T	XP_016856335.1:p.Ala1130Ser
XM_017000847.1:c.3385G>T	XP_016856336.1:p.Ala1129Ser
XM_017000848.1:c.3313G>T	XP_016856337.1:p.Ala1105Ser
XM_017000849.1:c.3298G>T	XP_016856338.1:p.Ala1100Ser
XM_017000850.1:c.3223G>T	XP_016856339.1:p.Ala1075Ser
NM_022089.4:c.3430G>T MANE Select	NP_071372.1:p.Ala1144Ser
NM_001141973.3:c.3415G>T	NP_001135445.1:p.Ala1139Ser
NM_001141974.3:c.3128G>T	NP_001135446.1:p.Arg1043Leu