Canonical Allele Identifier: CA338240402

Gene: ATP13A2

Linked Data

• gnomAD v4: 1-16989919-T-C
• MyVariant Identifiers: chr1:g.17316414T>C (hg19) ; chr1:g.16989919T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16989919T>C , CM000663.2:g.16989919T>C	GRCh38
NC_000001.10:g.17316414T>C , CM000663.1:g.17316414T>C	GRCh37
NC_000001.9:g.17189001T>C	NCBI36
NG_009054.1:g.27010A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.2497A>G MANE Select	ENSP00000327214.8:p.Ile833Val
ENST00000326735.12:c.2497A>G	ENSP00000327214.8:p.Ile833Val
ENST00000341676.9:c.2398-149A>G	ENSP00000341115.5:n.2398-149A>G
ENST00000452699.5:c.2482A>G	ENSP00000413307.1:p.Ile828Val
ENST00000466561.1:n.371A>G
ENST00000502418.1:c.85A>G	ENSP00000423065.1:p.Ile29Val
NM_001141973.2:c.2482A>G	NP_001135445.1:p.Ile828Val
NM_001141974.2:c.2398-149A>G	NP_001135446.1:n.2398-149A>G
NM_022089.3:c.2497A>G	NP_071372.1:p.Ile833Val
XM_005245809.1:c.2497A>G	XP_005245866.1:p.Ile833Val
XM_005245810.1:c.2494A>G	XP_005245867.1:p.Ile832Val
XM_005245811.1:c.2482A>G	XP_005245868.1:p.Ile828Val
XM_005245812.1:c.2470A>G	XP_005245869.1:p.Ile824Val
XM_005245813.1:c.2437A>G	XP_005245870.1:p.Ile813Val
XM_005245815.1:c.2413-149A>G	XP_005245872.1:n.2413-149A>G
XM_006710512.1:c.2479A>G	XP_006710575.1:p.Ile827Val
XM_006710513.1:c.2455A>G	XP_006710576.1:p.Ile819Val
XM_011541128.1:c.2482A>G	XP_011539430.1:p.Ile828Val
XM_011541129.1:c.2290A>G	XP_011539431.1:p.Ile764Val
XM_017000844.1:c.2482A>G	XP_016856333.1:p.Ile828Val
XM_017000845.1:c.2479A>G	XP_016856334.1:p.Ile827Val
XM_017000846.1:c.2455A>G	XP_016856335.1:p.Ile819Val
XM_017000847.1:c.2452A>G	XP_016856336.1:p.Ile818Val
XM_017000848.1:c.2413-149A>G	XP_016856337.1:n.2413-149A>G
XM_017000849.1:c.2398-149A>G	XP_016856338.1:n.2398-149A>G
XM_017000850.1:c.2290A>G	XP_016856339.1:p.Ile764Val
NM_022089.4:c.2497A>G MANE Select	NP_071372.1:p.Ile833Val
NM_001141973.3:c.2482A>G	NP_001135445.1:p.Ile828Val
NM_001141974.3:c.2398-149A>G	NP_001135446.1:n.2398-149A>G