Canonical Allele Identifier: CA338230443

Gene: ATP13A2

Linked Data

• gnomAD v4: 1-16986019-C-T
• MyVariant Identifiers: chr1:g.17312514C>T (hg19) ; chr1:g.16986019C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986019C>T , CM000663.2:g.16986019C>T	GRCh38
NC_000001.10:g.17312514C>T , CM000663.1:g.17312514C>T	GRCh37
NC_000001.9:g.17185101C>T	NCBI36
NG_009054.1:g.30910G>A
NG_029688.1:g.568G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.*202G>A MANE Select	ENSP00000327214.8:n.*202G>A
ENST00000326735.12:c.*202G>A	ENSP00000327214.8:n.*202G>A
ENST00000341676.9:c.3443G>A	ENSP00000341115.5:p.Ser1148Asn
ENST00000452699.5:c.*202G>A	ENSP00000413307.1:n.*202G>A
ENST00000466561.1:n.1791G>A
ENST00000502418.1:c.1163G>A	ENSP00000423065.1:p.Ser388Asn
NM_001141973.2:c.*202G>A	NP_001135445.1:n.*202G>A
NM_001141974.2:c.3443G>A	NP_001135446.1:p.Ser1148Asn
NM_022089.3:c.*202G>A	NP_071372.1:n.*202G>A
XM_005245809.1:c.3575G>A	XP_005245866.1:p.Ser1192Asn
XM_005245810.1:c.3572G>A	XP_005245867.1:p.Ser1191Asn
XM_005245811.1:c.3560G>A	XP_005245868.1:p.Ser1187Asn
XM_005245812.1:c.3548G>A	XP_005245869.1:p.Ser1183Asn
XM_005245813.1:c.3515G>A	XP_005245870.1:p.Ser1172Asn
XM_005245815.1:c.3458G>A	XP_005245872.1:p.Ser1153Asn
XM_006710512.1:c.3557G>A	XP_006710575.1:p.Ser1186Asn
XM_006710513.1:c.3533G>A	XP_006710576.1:p.Ser1178Asn
XM_011541128.1:c.3560G>A	XP_011539430.1:p.Ser1187Asn
XM_011541129.1:c.3368G>A	XP_011539431.1:p.Ser1123Asn
XM_017000844.1:c.*202G>A	XP_016856333.1:n.*202G>A
XM_017000845.1:c.*202G>A	XP_016856334.1:n.*202G>A
XM_017000846.1:c.*202G>A	XP_016856335.1:n.*202G>A
XM_017000847.1:c.*202G>A	XP_016856336.1:n.*202G>A
XM_017000848.1:c.*202G>A	XP_016856337.1:n.*202G>A
XM_017000849.1:c.*202G>A	XP_016856338.1:n.*202G>A
XM_017000850.1:c.*202G>A	XP_016856339.1:n.*202G>A
NM_022089.4:c.*202G>A MANE Select	NP_071372.1:n.*202G>A
NM_001141973.3:c.*202G>A	NP_001135445.1:n.*202G>A
NM_001141974.3:c.3443G>A	NP_001135446.1:p.Ser1148Asn