Canonical Allele Identifier: CA338239888

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17316264A>C (hg19) ; chr1:g.16989769A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16989769A>C , CM000663.2:g.16989769A>C	GRCh38
NC_000001.10:g.17316264A>C , CM000663.1:g.17316264A>C	GRCh37
NC_000001.9:g.17188851A>C	NCBI36
NG_009054.1:g.27160T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.2531T>G MANE Select	ENSP00000327214.8:p.Val844Gly
ENST00000326735.12:c.2531T>G	ENSP00000327214.8:p.Val844Gly
ENST00000341676.9:c.2399T>G	ENSP00000341115.5:p.Val800Gly
ENST00000452699.5:c.2516T>G	ENSP00000413307.1:p.Val839Gly
ENST00000466561.1:n.405T>G
ENST00000502418.1:c.119T>G	ENSP00000423065.1:p.Val40Gly
NM_001141973.2:c.2516T>G	NP_001135445.1:p.Val839Gly
NM_001141974.2:c.2399T>G	NP_001135446.1:p.Val800Gly
NM_022089.3:c.2531T>G	NP_071372.1:p.Val844Gly
XM_005245809.1:c.2531T>G	XP_005245866.1:p.Val844Gly
XM_005245810.1:c.2528T>G	XP_005245867.1:p.Val843Gly
XM_005245811.1:c.2516T>G	XP_005245868.1:p.Val839Gly
XM_005245812.1:c.2504T>G	XP_005245869.1:p.Val835Gly
XM_005245813.1:c.2471T>G	XP_005245870.1:p.Val824Gly
XM_005245815.1:c.2414T>G	XP_005245872.1:p.Val805Gly
XM_006710512.1:c.2513T>G	XP_006710575.1:p.Val838Gly
XM_006710513.1:c.2489T>G	XP_006710576.1:p.Val830Gly
XM_011541128.1:c.2516T>G	XP_011539430.1:p.Val839Gly
XM_011541129.1:c.2324T>G	XP_011539431.1:p.Val775Gly
XM_017000844.1:c.2516T>G	XP_016856333.1:p.Val839Gly
XM_017000845.1:c.2513T>G	XP_016856334.1:p.Val838Gly
XM_017000846.1:c.2489T>G	XP_016856335.1:p.Val830Gly
XM_017000847.1:c.2486T>G	XP_016856336.1:p.Val829Gly
XM_017000848.1:c.2414T>G	XP_016856337.1:p.Val805Gly
XM_017000849.1:c.2399T>G	XP_016856338.1:p.Val800Gly
XM_017000850.1:c.2324T>G	XP_016856339.1:p.Val775Gly
NM_022089.4:c.2531T>G MANE Select	NP_071372.1:p.Val844Gly
NM_001141973.3:c.2516T>G	NP_001135445.1:p.Val839Gly
NM_001141974.3:c.2399T>G	NP_001135446.1:p.Val800Gly