Canonical Allele Identifier: CA338233289

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17313308T>C (hg19) ; chr1:g.16986813T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986813T>C , CM000663.2:g.16986813T>C	GRCh38
NC_000001.10:g.17313308T>C , CM000663.1:g.17313308T>C	GRCh37
NC_000001.9:g.17185895T>C	NCBI36
NG_009054.1:g.30116A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.3227A>G MANE Select	ENSP00000327214.8:p.Tyr1076Cys
ENST00000326735.12:c.3227A>G	ENSP00000327214.8:p.Tyr1076Cys
ENST00000341676.9:c.3095A>G	ENSP00000341115.5:p.Tyr1032Cys
ENST00000452699.5:c.3212A>G	ENSP00000413307.1:p.Tyr1071Cys
ENST00000466561.1:n.1101A>G
ENST00000502418.1:c.815A>G	ENSP00000423065.1:p.Tyr272Cys
NM_001141973.2:c.3212A>G	NP_001135445.1:p.Tyr1071Cys
NM_001141974.2:c.3095A>G	NP_001135446.1:p.Tyr1032Cys
NM_022089.3:c.3227A>G	NP_071372.1:p.Tyr1076Cys
XM_005245809.1:c.3227A>G	XP_005245866.1:p.Tyr1076Cys
XM_005245810.1:c.3224A>G	XP_005245867.1:p.Tyr1075Cys
XM_005245811.1:c.3212A>G	XP_005245868.1:p.Tyr1071Cys
XM_005245812.1:c.3200A>G	XP_005245869.1:p.Tyr1067Cys
XM_005245813.1:c.3167A>G	XP_005245870.1:p.Tyr1056Cys
XM_005245815.1:c.3110A>G	XP_005245872.1:p.Tyr1037Cys
XM_006710512.1:c.3209A>G	XP_006710575.1:p.Tyr1070Cys
XM_006710513.1:c.3185A>G	XP_006710576.1:p.Tyr1062Cys
XM_011541128.1:c.3212A>G	XP_011539430.1:p.Tyr1071Cys
XM_011541129.1:c.3020A>G	XP_011539431.1:p.Tyr1007Cys
XM_017000844.1:c.3212A>G	XP_016856333.1:p.Tyr1071Cys
XM_017000845.1:c.3209A>G	XP_016856334.1:p.Tyr1070Cys
XM_017000846.1:c.3185A>G	XP_016856335.1:p.Tyr1062Cys
XM_017000847.1:c.3182A>G	XP_016856336.1:p.Tyr1061Cys
XM_017000848.1:c.3110A>G	XP_016856337.1:p.Tyr1037Cys
XM_017000849.1:c.3095A>G	XP_016856338.1:p.Tyr1032Cys
XM_017000850.1:c.3020A>G	XP_016856339.1:p.Tyr1007Cys
NM_022089.4:c.3227A>G MANE Select	NP_071372.1:p.Tyr1076Cys
NM_001141973.3:c.3212A>G	NP_001135445.1:p.Tyr1071Cys
NM_001141974.3:c.3095A>G	NP_001135446.1:p.Tyr1032Cys