Canonical Allele Identifier: CA338232453

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17312818G>A (hg19) ; chr1:g.16986323G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986323G>A , CM000663.2:g.16986323G>A	GRCh38
NC_000001.10:g.17312818G>A , CM000663.1:g.17312818G>A	GRCh37
NC_000001.9:g.17185405G>A	NCBI36
NG_009054.1:g.30606C>T
NG_029688.1:g.264C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3441C>T MANE Select	ENSP00000327214.8:p.Arg1147=
ENST00000326735.12:c.3441C>T	ENSP00000327214.8:p.Arg1147=
ENST00000341676.9:c.3139C>T	ENSP00000341115.5:p.Pro1047Ser
ENST00000452699.5:c.3426C>T	ENSP00000413307.1:p.Arg1142=
ENST00000466561.1:n.1487C>T
ENST00000502418.1:c.859C>T	ENSP00000423065.1:p.Pro287Ser
NM_001141973.2:c.3426C>T	NP_001135445.1:p.Arg1142=
NM_001141974.2:c.3139C>T	NP_001135446.1:p.Pro1047Ser
NM_022089.3:c.3441C>T	NP_071372.1:p.Arg1147=
XM_005245809.1:c.3271C>T	XP_005245866.1:p.Pro1091Ser
XM_005245810.1:c.3268C>T	XP_005245867.1:p.Pro1090Ser
XM_005245811.1:c.3256C>T	XP_005245868.1:p.Pro1086Ser
XM_005245812.1:c.3244C>T	XP_005245869.1:p.Pro1082Ser
XM_005245813.1:c.3211C>T	XP_005245870.1:p.Pro1071Ser
XM_005245815.1:c.3154C>T	XP_005245872.1:p.Pro1052Ser
XM_006710512.1:c.3253C>T	XP_006710575.1:p.Pro1085Ser
XM_006710513.1:c.3229C>T	XP_006710576.1:p.Pro1077Ser
XM_011541128.1:c.3256C>T	XP_011539430.1:p.Pro1086Ser
XM_011541129.1:c.3064C>T	XP_011539431.1:p.Pro1022Ser
XM_017000844.1:c.3426C>T	XP_016856333.1:p.Arg1142=
XM_017000845.1:c.3423C>T	XP_016856334.1:p.Arg1141=
XM_017000846.1:c.3399C>T	XP_016856335.1:p.Arg1133=
XM_017000847.1:c.3396C>T	XP_016856336.1:p.Arg1132=
XM_017000848.1:c.3324C>T	XP_016856337.1:p.Arg1108=
XM_017000849.1:c.3309C>T	XP_016856338.1:p.Arg1103=
XM_017000850.1:c.3234C>T	XP_016856339.1:p.Arg1078=
NM_022089.4:c.3441C>T MANE Select	NP_071372.1:p.Arg1147=
NM_001141973.3:c.3426C>T	NP_001135445.1:p.Arg1142=
NM_001141974.3:c.3139C>T	NP_001135446.1:p.Pro1047Ser