Canonical Allele Identifier: CA2580611136

Gene: ATP13A2

Linked Data

• ClinVar Variation Id: 2505359
• ClinVar RCV Id: RCV003234628

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16996090_16996111dup , CM000663.2:g.16996090_16996111dup	GRCh38
NC_000001.10:g.17322585_17322606dup , CM000663.1:g.17322585_17322606dup	GRCh37
NC_000001.9:g.17195172_17195193dup	NCBI36
NG_009054.1:g.20818_20839dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.1407_1428dup MANE Select	ENSP00000327214.8:p.Met477AlafsTer?
ENST00000326735.12:c.1407_1428dup	ENSP00000327214.8:p.Met477AlafsTer?
ENST00000341676.9:c.1392_1413dup	ENSP00000341115.5:p.Met472AlafsTer?
ENST00000452699.5:c.1392_1413dup	ENSP00000413307.1:p.Met472AlafsTer?
ENST00000463860.5:n.1015_1036dup
ENST00000502860.1:n.435_456dup
ENST00000503552.1:c.84_105dup	ENSP00000421126.1:p.Met36AlafsTer?
ENST00000506174.5:c.549_570dup	ENSP00000424393.1:p.Met191AlafsTer?
ENST00000509392.1:n.495_516dup
ENST00000617114.4:c.435_456dup	ENSP00000478781.1:p.Met153AlafsTer?
NM_001141973.2:c.1392_1413dup	NP_001135445.1:p.Met472AlafsTer?
NM_001141974.2:c.1392_1413dup	NP_001135446.1:p.Met472AlafsTer?
NM_022089.3:c.1407_1428dup	NP_071372.1:p.Met477AlafsTer?
XM_005245809.1:c.1407_1428dup	XP_005245866.1:p.Met477AlafsTer?
XM_005245810.1:c.1404_1425dup	XP_005245867.1:p.Met476AlafsTer?
XM_005245811.1:c.1392_1413dup	XP_005245868.1:p.Met472AlafsTer?
XM_005245812.1:c.1380_1401dup	XP_005245869.1:p.Met468AlafsTer?
XM_005245813.1:c.1407_1428dup	XP_005245870.1:p.Met477AlafsTer?
XM_005245815.1:c.1407_1428dup	XP_005245872.1:p.Met477AlafsTer?
XM_006710512.1:c.1389_1410dup	XP_006710575.1:p.Met471AlafsTer?
XM_006710513.1:c.1365_1386dup	XP_006710576.1:p.Met463AlafsTer?
XM_011541128.1:c.1407_1428dup	XP_011539430.1:p.Met477AlafsTer?
XM_011541129.1:c.1407_1428dup	XP_011539431.1:p.Met477AlafsTer?
XM_017000844.1:c.1407_1428dup	XP_016856333.1:p.Met477AlafsTer?
XM_017000845.1:c.1389_1410dup	XP_016856334.1:p.Met471AlafsTer?
XM_017000846.1:c.1365_1386dup	XP_016856335.1:p.Met463AlafsTer?
XM_017000847.1:c.1377_1398dup	XP_016856336.1:p.Met467AlafsTer?
XM_017000848.1:c.1407_1428dup	XP_016856337.1:p.Met477AlafsTer?
XM_017000849.1:c.1392_1413dup	XP_016856338.1:p.Met472AlafsTer?
XM_017000850.1:c.1407_1428dup	XP_016856339.1:p.Met477AlafsTer?
NM_022089.4:c.1407_1428dup MANE Select	NP_071372.1:p.Met477AlafsTer?
NM_001141973.3:c.1392_1413dup	NP_001135445.1:p.Met472AlafsTer?
NM_001141974.3:c.1392_1413dup	NP_001135446.1:p.Met472AlafsTer?