Canonical Allele Identifier: CA637030

Gene: ATP13A2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16992301G>C , CM000663.2:g.16992301G>C	GRCh38
NC_000001.10:g.17318796G>C , CM000663.1:g.17318796G>C	GRCh37
NC_000001.9:g.17191383G>C	NCBI36
NG_009054.1:g.24628C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.1947C>G MANE Select	ENSP00000327214.8:p.Pro649=
ENST00000326735.12:c.1947C>G	ENSP00000327214.8:p.Pro649=
ENST00000341676.9:c.1932C>G	ENSP00000341115.5:p.Pro644=
ENST00000452699.5:c.1932C>G	ENSP00000413307.1:p.Pro644=
ENST00000503552.1:c.357C>G	ENSP00000421126.1:p.Pro119=
NM_001141973.2:c.1932C>G	NP_001135445.1:p.Pro644=
NM_001141974.2:c.1932C>G	NP_001135446.1:p.Pro644=
NM_022089.3:c.1947C>G	NP_071372.1:p.Pro649=
XM_005245809.1:c.1947C>G	XP_005245866.1:p.Pro649=
XM_005245810.1:c.1944C>G	XP_005245867.1:p.Pro648=
XM_005245811.1:c.1932C>G	XP_005245868.1:p.Pro644=
XM_005245812.1:c.1920C>G	XP_005245869.1:p.Pro640=
XM_005245813.1:c.1887C>G	XP_005245870.1:p.Pro629=
XM_005245815.1:c.1947C>G	XP_005245872.1:p.Pro649=
XM_006710512.1:c.1929C>G	XP_006710575.1:p.Pro643=
XM_006710513.1:c.1905C>G	XP_006710576.1:p.Pro635=
XM_011541128.1:c.1932C>G	XP_011539430.1:p.Pro644=
XM_011541129.1:c.1740C>G	XP_011539431.1:p.Pro580=
XM_017000844.1:c.1932C>G	XP_016856333.1:p.Pro644=
XM_017000845.1:c.1929C>G	XP_016856334.1:p.Pro643=
XM_017000846.1:c.1905C>G	XP_016856335.1:p.Pro635=
XM_017000847.1:c.1902C>G	XP_016856336.1:p.Pro634=
XM_017000848.1:c.1947C>G	XP_016856337.1:p.Pro649=
XM_017000849.1:c.1932C>G	XP_016856338.1:p.Pro644=
XM_017000850.1:c.1740C>G	XP_016856339.1:p.Pro580=
NM_022089.4:c.1947C>G MANE Select	NP_071372.1:p.Pro649=
NM_001141973.3:c.1932C>G	NP_001135445.1:p.Pro644=
NM_001141974.3:c.1932C>G	NP_001135446.1:p.Pro644=