Canonical Allele Identifier: CA636517

Gene: ATP13A2

Linked Data

• dbSNP Id: rs775304821
• ExAC: 1:17312998 C / T
• gnomAD v2: 1-17312998-C-T
• gnomAD v4: 1-16986503-C-T
• MyVariant Identifiers: chr1:g.17312998C>T (hg19) ; chr1:g.16986503C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986503C>T , CM000663.2:g.16986503C>T	GRCh38
NC_000001.10:g.17312998C>T , CM000663.1:g.17312998C>T	GRCh37
NC_000001.9:g.17185585C>T	NCBI36
NG_009054.1:g.30426G>A
NG_029688.1:g.84G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3365G>A MANE Select	ENSP00000327214.8:p.Gly1122Asp
ENST00000326735.12:c.3365G>A	ENSP00000327214.8:p.Gly1122Asp
ENST00000341676.9:c.3104-145G>A	ENSP00000341115.5:n.3104-145G>A
ENST00000452699.5:c.3350G>A	ENSP00000413307.1:p.Gly1117Asp
ENST00000466561.1:n.1411G>A
ENST00000502418.1:c.824-145G>A	ENSP00000423065.1:n.824-145G>A
NM_001141973.2:c.3350G>A	NP_001135445.1:p.Gly1117Asp
NM_001141974.2:c.3104-145G>A	NP_001135446.1:n.3104-145G>A
NM_022089.3:c.3365G>A	NP_071372.1:p.Gly1122Asp
XM_005245809.1:c.3236-145G>A	XP_005245866.1:n.3236-145G>A
XM_005245810.1:c.3233-145G>A	XP_005245867.1:n.3233-145G>A
XM_005245811.1:c.3221-145G>A	XP_005245868.1:n.3221-145G>A
XM_005245812.1:c.3209-145G>A	XP_005245869.1:n.3209-145G>A
XM_005245813.1:c.3176-145G>A	XP_005245870.1:n.3176-145G>A
XM_005245815.1:c.3119-145G>A	XP_005245872.1:n.3119-145G>A
XM_006710512.1:c.3218-145G>A	XP_006710575.1:n.3218-145G>A
XM_006710513.1:c.3194-145G>A	XP_006710576.1:n.3194-145G>A
XM_011541128.1:c.3221-145G>A	XP_011539430.1:n.3221-145G>A
XM_011541129.1:c.3029-145G>A	XP_011539431.1:n.3029-145G>A
XM_017000844.1:c.3350G>A	XP_016856333.1:p.Gly1117Asp
XM_017000845.1:c.3347G>A	XP_016856334.1:p.Gly1116Asp
XM_017000846.1:c.3323G>A	XP_016856335.1:p.Gly1108Asp
XM_017000847.1:c.3320G>A	XP_016856336.1:p.Gly1107Asp
XM_017000848.1:c.3248G>A	XP_016856337.1:p.Gly1083Asp
XM_017000849.1:c.3233G>A	XP_016856338.1:p.Gly1078Asp
XM_017000850.1:c.3158G>A	XP_016856339.1:p.Gly1053Asp
NM_022089.4:c.3365G>A MANE Select	NP_071372.1:p.Gly1122Asp
NM_001141973.3:c.3350G>A	NP_001135445.1:p.Gly1117Asp
NM_001141974.3:c.3104-145G>A	NP_001135446.1:n.3104-145G>A