Canonical Allele Identifier: CA416094008

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17316197T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16989702T>C , CM000663.2:g.16989702T>C	GRCh38
NC_000001.10:g.17316197T>C , CM000663.1:g.17316197T>C	GRCh37
NC_000001.9:g.17188784T>C	NCBI36
NG_009054.1:g.27227A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.2598A>G MANE Select	ENSP00000327214.8:p.Leu866=
ENST00000326735.12:c.2598A>G	ENSP00000327214.8:p.Leu866=
ENST00000341676.9:c.2466A>G	ENSP00000341115.5:p.Leu822=
ENST00000452699.5:c.2583A>G	ENSP00000413307.1:p.Leu861=
ENST00000466561.1:n.472A>G
ENST00000502418.1:c.186A>G	ENSP00000423065.1:p.Leu62=
NM_001141973.2:c.2583A>G	NP_001135445.1:p.Leu861=
NM_001141974.2:c.2466A>G	NP_001135446.1:p.Leu822=
NM_022089.3:c.2598A>G	NP_071372.1:p.Leu866=
XM_005245809.1:c.2598A>G	XP_005245866.1:p.Leu866=
XM_005245810.1:c.2595A>G	XP_005245867.1:p.Leu865=
XM_005245811.1:c.2583A>G	XP_005245868.1:p.Leu861=
XM_005245812.1:c.2571A>G	XP_005245869.1:p.Leu857=
XM_005245813.1:c.2538A>G	XP_005245870.1:p.Leu846=
XM_005245815.1:c.2481A>G	XP_005245872.1:p.Leu827=
XM_006710512.1:c.2580A>G	XP_006710575.1:p.Leu860=
XM_006710513.1:c.2556A>G	XP_006710576.1:p.Leu852=
XM_011541128.1:c.2583A>G	XP_011539430.1:p.Leu861=
XM_011541129.1:c.2391A>G	XP_011539431.1:p.Leu797=
XM_017000844.1:c.2583A>G	XP_016856333.1:p.Leu861=
XM_017000845.1:c.2580A>G	XP_016856334.1:p.Leu860=
XM_017000846.1:c.2556A>G	XP_016856335.1:p.Leu852=
XM_017000847.1:c.2553A>G	XP_016856336.1:p.Leu851=
XM_017000848.1:c.2481A>G	XP_016856337.1:p.Leu827=
XM_017000849.1:c.2466A>G	XP_016856338.1:p.Leu822=
XM_017000850.1:c.2391A>G	XP_016856339.1:p.Leu797=
NM_022089.4:c.2598A>G MANE Select	NP_071372.1:p.Leu866=
NM_001141973.3:c.2583A>G	NP_001135445.1:p.Leu861=
NM_001141974.3:c.2466A>G	NP_001135446.1:p.Leu822=