Canonical Allele Identifier: CA637302

Gene: ATP13A2

Linked Data

• dbSNP Id: rs374714294
• ExAC: 1:17322922 T / C
• gnomAD v2: 1-17322922-T-C
• gnomAD v3: 1-16996427-T-C
• gnomAD v4: 1-16996427-T-C
• MyVariant Identifiers: chr1:g.17322922T>C (hg19) ; chr1:g.16996427T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16996427T>C , CM000663.2:g.16996427T>C	GRCh38
NC_000001.10:g.17322922T>C , CM000663.1:g.17322922T>C	GRCh37
NC_000001.9:g.17195509T>C	NCBI36
NG_009054.1:g.20502A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.1265A>G MANE Select	ENSP00000327214.8:p.Tyr422Cys
ENST00000326735.12:c.1265A>G	ENSP00000327214.8:p.Tyr422Cys
ENST00000341676.9:c.1250A>G	ENSP00000341115.5:p.Tyr417Cys
ENST00000452699.5:c.1250A>G	ENSP00000413307.1:p.Tyr417Cys
ENST00000463860.5:n.873A>G
ENST00000502860.1:n.335-127A>G
ENST00000506174.5:c.407A>G	ENSP00000424393.1:p.Tyr136Cys
ENST00000509392.1:n.268A>G
ENST00000617114.4:c.335-127A>G	ENSP00000478781.1:n.335-127A>G
NM_001141973.2:c.1250A>G	NP_001135445.1:p.Tyr417Cys
NM_001141974.2:c.1250A>G	NP_001135446.1:p.Tyr417Cys
NM_022089.3:c.1265A>G	NP_071372.1:p.Tyr422Cys
XM_005245809.1:c.1265A>G	XP_005245866.1:p.Tyr422Cys
XM_005245810.1:c.1262A>G	XP_005245867.1:p.Tyr421Cys
XM_005245811.1:c.1250A>G	XP_005245868.1:p.Tyr417Cys
XM_005245812.1:c.1238A>G	XP_005245869.1:p.Tyr413Cys
XM_005245813.1:c.1265A>G	XP_005245870.1:p.Tyr422Cys
XM_005245815.1:c.1265A>G	XP_005245872.1:p.Tyr422Cys
XM_006710512.1:c.1247A>G	XP_006710575.1:p.Tyr416Cys
XM_006710513.1:c.1223A>G	XP_006710576.1:p.Tyr408Cys
XM_011541128.1:c.1265A>G	XP_011539430.1:p.Tyr422Cys
XM_011541129.1:c.1265A>G	XP_011539431.1:p.Tyr422Cys
XM_017000844.1:c.1265A>G	XP_016856333.1:p.Tyr422Cys
XM_017000845.1:c.1247A>G	XP_016856334.1:p.Tyr416Cys
XM_017000846.1:c.1223A>G	XP_016856335.1:p.Tyr408Cys
XM_017000847.1:c.1235A>G	XP_016856336.1:p.Tyr412Cys
XM_017000848.1:c.1265A>G	XP_016856337.1:p.Tyr422Cys
XM_017000849.1:c.1250A>G	XP_016856338.1:p.Tyr417Cys
XM_017000850.1:c.1265A>G	XP_016856339.1:p.Tyr422Cys
NM_022089.4:c.1265A>G MANE Select	NP_071372.1:p.Tyr422Cys
NM_001141973.3:c.1250A>G	NP_001135445.1:p.Tyr417Cys
NM_001141974.3:c.1250A>G	NP_001135446.1:p.Tyr417Cys