Canonical Allele Identifier: CA338239904

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17316265C>G (hg19) ; chr1:g.16989770C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16989770C>G , CM000663.2:g.16989770C>G	GRCh38
NC_000001.10:g.17316265C>G , CM000663.1:g.17316265C>G	GRCh37
NC_000001.9:g.17188852C>G	NCBI36
NG_009054.1:g.27159G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.2530G>C MANE Select	ENSP00000327214.8:p.Val844Leu
ENST00000326735.12:c.2530G>C	ENSP00000327214.8:p.Val844Leu
ENST00000341676.9:c.2398G>C	ENSP00000341115.5:p.Val800Leu
ENST00000452699.5:c.2515G>C	ENSP00000413307.1:p.Val839Leu
ENST00000466561.1:n.404G>C
ENST00000502418.1:c.118G>C	ENSP00000423065.1:p.Val40Leu
NM_001141973.2:c.2515G>C	NP_001135445.1:p.Val839Leu
NM_001141974.2:c.2398G>C	NP_001135446.1:p.Val800Leu
NM_022089.3:c.2530G>C	NP_071372.1:p.Val844Leu
XM_005245809.1:c.2530G>C	XP_005245866.1:p.Val844Leu
XM_005245810.1:c.2527G>C	XP_005245867.1:p.Val843Leu
XM_005245811.1:c.2515G>C	XP_005245868.1:p.Val839Leu
XM_005245812.1:c.2503G>C	XP_005245869.1:p.Val835Leu
XM_005245813.1:c.2470G>C	XP_005245870.1:p.Val824Leu
XM_005245815.1:c.2413G>C	XP_005245872.1:p.Val805Leu
XM_006710512.1:c.2512G>C	XP_006710575.1:p.Val838Leu
XM_006710513.1:c.2488G>C	XP_006710576.1:p.Val830Leu
XM_011541128.1:c.2515G>C	XP_011539430.1:p.Val839Leu
XM_011541129.1:c.2323G>C	XP_011539431.1:p.Val775Leu
XM_017000844.1:c.2515G>C	XP_016856333.1:p.Val839Leu
XM_017000845.1:c.2512G>C	XP_016856334.1:p.Val838Leu
XM_017000846.1:c.2488G>C	XP_016856335.1:p.Val830Leu
XM_017000847.1:c.2485G>C	XP_016856336.1:p.Val829Leu
XM_017000848.1:c.2413G>C	XP_016856337.1:p.Val805Leu
XM_017000849.1:c.2398G>C	XP_016856338.1:p.Val800Leu
XM_017000850.1:c.2323G>C	XP_016856339.1:p.Val775Leu
NM_022089.4:c.2530G>C MANE Select	NP_071372.1:p.Val844Leu
NM_001141973.3:c.2515G>C	NP_001135445.1:p.Val839Leu
NM_001141974.3:c.2398G>C	NP_001135446.1:p.Val800Leu