Canonical Allele Identifier: CA637159

Gene: ATP13A2

Linked Data

• dbSNP Id: rs754796382
• ExAC: 1:17322318 A / AGT
• gnomAD v2: 1-17322318-A-AGT
• gnomAD v3: 1-16995823-A-AGT
• gnomAD v4: 1-16995823-A-AGT
• MyVariant Identifiers: chr1:g.17322318_17322319insGT (hg19) ; chr1:g.16995823_16995824insGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16995825_16995826dup , CM000663.2:g.16995825_16995826dup	GRCh38
NC_000001.10:g.17322320_17322321dup , CM000663.1:g.17322320_17322321dup	GRCh37
NC_000001.9:g.17194907_17194908dup	NCBI36
NG_009054.1:g.21104_21105dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.1542+151_1542+152dup MANE Select	ENSP00000327214.8:n.1542+151_1542+152dup
ENST00000326735.12:c.1542+151_1542+152dup	ENSP00000327214.8:n.1542+151_1542+152dup
ENST00000341676.9:c.1527+151_1527+152dup	ENSP00000341115.5:n.1527+151_1527+152dup
ENST00000452699.5:c.1527+151_1527+152dup	ENSP00000413307.1:n.1527+151_1527+152dup
ENST00000463860.5:n.1301_1302dup
ENST00000503552.1:c.219+151_219+152dup	ENSP00000421126.1:n.219+151_219+152dup
NM_001141973.2:c.1527+151_1527+152dup	NP_001135445.1:n.1527+151_1527+152dup
NM_001141974.2:c.1527+151_1527+152dup	NP_001135446.1:n.1527+151_1527+152dup
NM_022089.3:c.1542+151_1542+152dup	NP_071372.1:n.1542+151_1542+152dup
XM_005245809.1:c.1542+151_1542+152dup	XP_005245866.1:n.1542+151_1542+152dup
XM_005245810.1:c.1539+151_1539+152dup	XP_005245867.1:n.1539+151_1539+152dup
XM_005245811.1:c.1527+151_1527+152dup	XP_005245868.1:n.1527+151_1527+152dup
XM_005245812.1:c.1515+151_1515+152dup	XP_005245869.1:n.1515+151_1515+152dup
XM_005245813.1:c.1542+151_1542+152dup	XP_005245870.1:n.1542+151_1542+152dup
XM_005245815.1:c.1542+151_1542+152dup	XP_005245872.1:n.1542+151_1542+152dup
XM_006710512.1:c.1524+151_1524+152dup	XP_006710575.1:n.1524+151_1524+152dup
XM_006710513.1:c.1500+151_1500+152dup	XP_006710576.1:n.1500+151_1500+152dup
XM_011541128.1:c.1527+166_1527+167dup	XP_011539430.1:n.1527+166_1527+167dup
XM_011541129.1:c.1542+151_1542+152dup	XP_011539431.1:n.1542+151_1542+152dup
XM_017000844.1:c.1527+166_1527+167dup	XP_016856333.1:n.1527+166_1527+167dup
XM_017000845.1:c.1524+151_1524+152dup	XP_016856334.1:n.1524+151_1524+152dup
XM_017000846.1:c.1500+151_1500+152dup	XP_016856335.1:n.1500+151_1500+152dup
XM_017000847.1:c.1497+166_1497+167dup	XP_016856336.1:n.1497+166_1497+167dup
XM_017000848.1:c.1542+151_1542+152dup	XP_016856337.1:n.1542+151_1542+152dup
XM_017000849.1:c.1527+151_1527+152dup	XP_016856338.1:n.1527+151_1527+152dup
XM_017000850.1:c.1542+151_1542+152dup	XP_016856339.1:n.1542+151_1542+152dup
NM_022089.4:c.1542+151_1542+152dup MANE Select	NP_071372.1:n.1542+151_1542+152dup
NM_001141973.3:c.1527+151_1527+152dup	NP_001135445.1:n.1527+151_1527+152dup
NM_001141974.3:c.1527+151_1527+152dup	NP_001135446.1:n.1527+151_1527+152dup