Canonical Allele Identifier: CA338252976

Gene: ATP13A2

Linked Data

• gnomAD v4: 1-16996164-C-G
• MyVariant Identifiers: chr1:g.17322659C>G (hg19) ; chr1:g.16996164C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16996164C>G , CM000663.2:g.16996164C>G	GRCh38
NC_000001.10:g.17322659C>G , CM000663.1:g.17322659C>G	GRCh37
NC_000001.9:g.17195246C>G	NCBI36
NG_009054.1:g.20765G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.1354G>C MANE Select	ENSP00000327214.8:p.Val452Leu
ENST00000326735.12:c.1354G>C	ENSP00000327214.8:p.Val452Leu
ENST00000341676.9:c.1339G>C	ENSP00000341115.5:p.Val447Leu
ENST00000452699.5:c.1339G>C	ENSP00000413307.1:p.Val447Leu
ENST00000463860.5:n.962G>C
ENST00000502860.1:n.382G>C
ENST00000503552.1:c.31G>C	ENSP00000421126.1:p.Val11Leu
ENST00000506174.5:c.496G>C	ENSP00000424393.1:p.Val166Leu
ENST00000509392.1:n.442G>C
ENST00000617114.4:c.382G>C	ENSP00000478781.1:p.Val128Leu
NM_001141973.2:c.1339G>C	NP_001135445.1:p.Val447Leu
NM_001141974.2:c.1339G>C	NP_001135446.1:p.Val447Leu
NM_022089.3:c.1354G>C	NP_071372.1:p.Val452Leu
XM_005245809.1:c.1354G>C	XP_005245866.1:p.Val452Leu
XM_005245810.1:c.1351G>C	XP_005245867.1:p.Val451Leu
XM_005245811.1:c.1339G>C	XP_005245868.1:p.Val447Leu
XM_005245812.1:c.1327G>C	XP_005245869.1:p.Val443Leu
XM_005245813.1:c.1354G>C	XP_005245870.1:p.Val452Leu
XM_005245815.1:c.1354G>C	XP_005245872.1:p.Val452Leu
XM_006710512.1:c.1336G>C	XP_006710575.1:p.Val446Leu
XM_006710513.1:c.1312G>C	XP_006710576.1:p.Val438Leu
XM_011541128.1:c.1354G>C	XP_011539430.1:p.Val452Leu
XM_011541129.1:c.1354G>C	XP_011539431.1:p.Val452Leu
XM_017000844.1:c.1354G>C	XP_016856333.1:p.Val452Leu
XM_017000845.1:c.1336G>C	XP_016856334.1:p.Val446Leu
XM_017000846.1:c.1312G>C	XP_016856335.1:p.Val438Leu
XM_017000847.1:c.1324G>C	XP_016856336.1:p.Val442Leu
XM_017000848.1:c.1354G>C	XP_016856337.1:p.Val452Leu
XM_017000849.1:c.1339G>C	XP_016856338.1:p.Val447Leu
XM_017000850.1:c.1354G>C	XP_016856339.1:p.Val452Leu
NM_022089.4:c.1354G>C MANE Select	NP_071372.1:p.Val452Leu
NM_001141973.3:c.1339G>C	NP_001135445.1:p.Val447Leu
NM_001141974.3:c.1339G>C	NP_001135446.1:p.Val447Leu