Canonical Allele Identifier: CA338231856

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17312718A>C (hg19) ; chr1:g.16986223A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986223A>C , CM000663.2:g.16986223A>C	GRCh38
NC_000001.10:g.17312718A>C , CM000663.1:g.17312718A>C	GRCh37
NC_000001.9:g.17185305A>C	NCBI36
NG_009054.1:g.30706T>G
NG_029688.1:g.364T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3541T>G MANE Select	ENSP00000327214.8:p.Ter1181Glu
ENST00000326735.12:c.3541T>G	ENSP00000327214.8:p.Ter1181Glu
ENST00000341676.9:c.3239T>G	ENSP00000341115.5:p.Val1080Gly
ENST00000452699.5:c.3526T>G	ENSP00000413307.1:p.Ter1176Glu
ENST00000466561.1:n.1587T>G
ENST00000502418.1:c.959T>G	ENSP00000423065.1:p.Val320Gly
NM_001141973.2:c.3526T>G	NP_001135445.1:p.Ter1176Glu
NM_001141974.2:c.3239T>G	NP_001135446.1:p.Val1080Gly
NM_022089.3:c.3541T>G	NP_071372.1:p.Ter1181Glu
XM_005245809.1:c.3371T>G	XP_005245866.1:p.Val1124Gly
XM_005245810.1:c.3368T>G	XP_005245867.1:p.Val1123Gly
XM_005245811.1:c.3356T>G	XP_005245868.1:p.Val1119Gly
XM_005245812.1:c.3344T>G	XP_005245869.1:p.Val1115Gly
XM_005245813.1:c.3311T>G	XP_005245870.1:p.Val1104Gly
XM_005245815.1:c.3254T>G	XP_005245872.1:p.Val1085Gly
XM_006710512.1:c.3353T>G	XP_006710575.1:p.Val1118Gly
XM_006710513.1:c.3329T>G	XP_006710576.1:p.Val1110Gly
XM_011541128.1:c.3356T>G	XP_011539430.1:p.Val1119Gly
XM_011541129.1:c.3164T>G	XP_011539431.1:p.Val1055Gly
XM_017000844.1:c.3526T>G	XP_016856333.1:p.Ter1176Glu
XM_017000845.1:c.3523T>G	XP_016856334.1:p.Ter1175Glu
XM_017000846.1:c.3499T>G	XP_016856335.1:p.Ter1167Glu
XM_017000847.1:c.3496T>G	XP_016856336.1:p.Ter1166Glu
XM_017000848.1:c.3424T>G	XP_016856337.1:p.Ter1142Glu
XM_017000849.1:c.3409T>G	XP_016856338.1:p.Ter1137Glu
XM_017000850.1:c.3334T>G	XP_016856339.1:p.Ter1112Glu
NM_022089.4:c.3541T>G MANE Select	NP_071372.1:p.Ter1181Glu
NM_001141973.3:c.3526T>G	NP_001135445.1:p.Ter1176Glu
NM_001141974.3:c.3239T>G	NP_001135446.1:p.Val1080Gly