Canonical Allele Identifier: CA338246505

Gene: ATP13A2

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16992389A>G , CM000663.2:g.16992389A>G	GRCh38
NC_000001.10:g.17318884A>G , CM000663.1:g.17318884A>G	GRCh37
NC_000001.9:g.17191471A>G	NCBI36
NG_009054.1:g.24540T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.1859T>C MANE Select	ENSP00000327214.8:p.Val620Ala
ENST00000326735.12:c.1859T>C	ENSP00000327214.8:p.Val620Ala
ENST00000341676.9:c.1844T>C	ENSP00000341115.5:p.Val615Ala
ENST00000452699.5:c.1844T>C	ENSP00000413307.1:p.Val615Ala
ENST00000503552.1:c.316-47T>C	ENSP00000421126.1:n.316-47T>C
NM_001141973.2:c.1844T>C	NP_001135445.1:p.Val615Ala
NM_001141974.2:c.1844T>C	NP_001135446.1:p.Val615Ala
NM_022089.3:c.1859T>C	NP_071372.1:p.Val620Ala
XM_005245809.1:c.1859T>C	XP_005245866.1:p.Val620Ala
XM_005245810.1:c.1856T>C	XP_005245867.1:p.Val619Ala
XM_005245811.1:c.1844T>C	XP_005245868.1:p.Val615Ala
XM_005245812.1:c.1832T>C	XP_005245869.1:p.Val611Ala
XM_005245813.1:c.1846-47T>C	XP_005245870.1:n.1846-47T>C
XM_005245815.1:c.1859T>C	XP_005245872.1:p.Val620Ala
XM_006710512.1:c.1841T>C	XP_006710575.1:p.Val614Ala
XM_006710513.1:c.1817T>C	XP_006710576.1:p.Val606Ala
XM_011541128.1:c.1844T>C	XP_011539430.1:p.Val615Ala
XM_011541129.1:c.1652T>C	XP_011539431.1:p.Val551Ala
XM_017000844.1:c.1844T>C	XP_016856333.1:p.Val615Ala
XM_017000845.1:c.1841T>C	XP_016856334.1:p.Val614Ala
XM_017000846.1:c.1817T>C	XP_016856335.1:p.Val606Ala
XM_017000847.1:c.1814T>C	XP_016856336.1:p.Val605Ala
XM_017000848.1:c.1859T>C	XP_016856337.1:p.Val620Ala
XM_017000849.1:c.1844T>C	XP_016856338.1:p.Val615Ala
XM_017000850.1:c.1652T>C	XP_016856339.1:p.Val551Ala
NM_022089.4:c.1859T>C MANE Select	NP_071372.1:p.Val620Ala
NM_001141973.3:c.1844T>C	NP_001135445.1:p.Val615Ala
NM_001141974.3:c.1844T>C	NP_001135446.1:p.Val615Ala