Canonical Allele Identifier: CA338254715

Gene: ATP13A2

Linked Data

• ClinVar Variation Id: 1757047
• ClinVar RCV Id: RCV002365138
• dbSNP Id: rs1445295652
• gnomAD v2: 1-17322951-C-A
• gnomAD v4: 1-16996456-C-A
• MyVariant Identifiers: chr1:g.17322951C>A (hg19) ; chr1:g.16996456C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16996456C>A , CM000663.2:g.16996456C>A	GRCh38
NC_000001.10:g.17322951C>A , CM000663.1:g.17322951C>A	GRCh37
NC_000001.9:g.17195538C>A	NCBI36
NG_009054.1:g.20473G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.1236G>T MANE Select	ENSP00000327214.8:p.Leu412Phe
ENST00000326735.12:c.1236G>T	ENSP00000327214.8:p.Leu412Phe
ENST00000341676.9:c.1221G>T	ENSP00000341115.5:p.Leu407Phe
ENST00000452699.5:c.1221G>T	ENSP00000413307.1:p.Leu407Phe
ENST00000463860.5:n.844G>T
ENST00000502860.1:n.335-156G>T
ENST00000506174.5:c.378G>T	ENSP00000424393.1:p.Leu126Phe
ENST00000509392.1:n.239G>T
ENST00000617114.4:c.335-156G>T	ENSP00000478781.1:n.335-156G>T
NM_001141973.2:c.1221G>T	NP_001135445.1:p.Leu407Phe
NM_001141974.2:c.1221G>T	NP_001135446.1:p.Leu407Phe
NM_022089.3:c.1236G>T	NP_071372.1:p.Leu412Phe
XM_005245809.1:c.1236G>T	XP_005245866.1:p.Leu412Phe
XM_005245810.1:c.1233G>T	XP_005245867.1:p.Leu411Phe
XM_005245811.1:c.1221G>T	XP_005245868.1:p.Leu407Phe
XM_005245812.1:c.1209G>T	XP_005245869.1:p.Leu403Phe
XM_005245813.1:c.1236G>T	XP_005245870.1:p.Leu412Phe
XM_005245815.1:c.1236G>T	XP_005245872.1:p.Leu412Phe
XM_006710512.1:c.1218G>T	XP_006710575.1:p.Leu406Phe
XM_006710513.1:c.1194G>T	XP_006710576.1:p.Leu398Phe
XM_011541128.1:c.1236G>T	XP_011539430.1:p.Leu412Phe
XM_011541129.1:c.1236G>T	XP_011539431.1:p.Leu412Phe
XM_017000844.1:c.1236G>T	XP_016856333.1:p.Leu412Phe
XM_017000845.1:c.1218G>T	XP_016856334.1:p.Leu406Phe
XM_017000846.1:c.1194G>T	XP_016856335.1:p.Leu398Phe
XM_017000847.1:c.1206G>T	XP_016856336.1:p.Leu402Phe
XM_017000848.1:c.1236G>T	XP_016856337.1:p.Leu412Phe
XM_017000849.1:c.1221G>T	XP_016856338.1:p.Leu407Phe
XM_017000850.1:c.1236G>T	XP_016856339.1:p.Leu412Phe
NM_022089.4:c.1236G>T MANE Select	NP_071372.1:p.Leu412Phe
NM_001141973.3:c.1221G>T	NP_001135445.1:p.Leu407Phe
NM_001141974.3:c.1221G>T	NP_001135446.1:p.Leu407Phe