Canonical Allele Identifier: CA338232573

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17312844C>A (hg19) ; chr1:g.16986349C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986349C>A , CM000663.2:g.16986349C>A	GRCh38
NC_000001.10:g.17312844C>A , CM000663.1:g.17312844C>A	GRCh37
NC_000001.9:g.17185431C>A	NCBI36
NG_009054.1:g.30580G>T
NG_029688.1:g.238G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3415G>T MANE Select	ENSP00000327214.8:p.Asp1139Tyr
ENST00000326735.12:c.3415G>T	ENSP00000327214.8:p.Asp1139Tyr
ENST00000341676.9:c.3113G>T	ENSP00000341115.5:p.Arg1038Ile
ENST00000452699.5:c.3400G>T	ENSP00000413307.1:p.Asp1134Tyr
ENST00000466561.1:n.1461G>T
ENST00000502418.1:c.833G>T	ENSP00000423065.1:p.Arg278Ile
NM_001141973.2:c.3400G>T	NP_001135445.1:p.Asp1134Tyr
NM_001141974.2:c.3113G>T	NP_001135446.1:p.Arg1038Ile
NM_022089.3:c.3415G>T	NP_071372.1:p.Asp1139Tyr
XM_005245809.1:c.3245G>T	XP_005245866.1:p.Arg1082Ile
XM_005245810.1:c.3242G>T	XP_005245867.1:p.Arg1081Ile
XM_005245811.1:c.3230G>T	XP_005245868.1:p.Arg1077Ile
XM_005245812.1:c.3218G>T	XP_005245869.1:p.Arg1073Ile
XM_005245813.1:c.3185G>T	XP_005245870.1:p.Arg1062Ile
XM_005245815.1:c.3128G>T	XP_005245872.1:p.Arg1043Ile
XM_006710512.1:c.3227G>T	XP_006710575.1:p.Arg1076Ile
XM_006710513.1:c.3203G>T	XP_006710576.1:p.Arg1068Ile
XM_011541128.1:c.3230G>T	XP_011539430.1:p.Arg1077Ile
XM_011541129.1:c.3038G>T	XP_011539431.1:p.Arg1013Ile
XM_017000844.1:c.3400G>T	XP_016856333.1:p.Asp1134Tyr
XM_017000845.1:c.3397G>T	XP_016856334.1:p.Asp1133Tyr
XM_017000846.1:c.3373G>T	XP_016856335.1:p.Asp1125Tyr
XM_017000847.1:c.3370G>T	XP_016856336.1:p.Asp1124Tyr
XM_017000848.1:c.3298G>T	XP_016856337.1:p.Asp1100Tyr
XM_017000849.1:c.3283G>T	XP_016856338.1:p.Asp1095Tyr
XM_017000850.1:c.3208G>T	XP_016856339.1:p.Asp1070Tyr
NM_022089.4:c.3415G>T MANE Select	NP_071372.1:p.Asp1139Tyr
NM_001141973.3:c.3400G>T	NP_001135445.1:p.Asp1134Tyr
NM_001141974.3:c.3113G>T	NP_001135446.1:p.Arg1038Ile