Canonical Allele Identifier: CA637267

Gene: ATP13A2

Linked Data

• dbSNP Id: rs149372969
• ExAC: 1:17322793 G / A
• gnomAD v2: 1-17322793-G-A
• gnomAD v4: 1-16996298-G-A
• COSMIC: COSM899723 ; COSM4873296
• MyVariant Identifiers: chr1:g.17322793G>A (hg19) ; chr1:g.16996298G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16996298G>A , CM000663.2:g.16996298G>A	GRCh38
NC_000001.10:g.17322793G>A , CM000663.1:g.17322793G>A	GRCh37
NC_000001.9:g.17195380G>A	NCBI36
NG_009054.1:g.20631C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.1309C>T MANE Select	ENSP00000327214.8:p.Leu437Phe
ENST00000326735.12:c.1309C>T	ENSP00000327214.8:p.Leu437Phe
ENST00000341676.9:c.1294C>T	ENSP00000341115.5:p.Leu432Phe
ENST00000452699.5:c.1294C>T	ENSP00000413307.1:p.Leu432Phe
ENST00000463860.5:n.917C>T
ENST00000502860.1:n.337C>T
ENST00000506174.5:c.451C>T	ENSP00000424393.1:p.Leu151Phe
ENST00000509392.1:n.397C>T
ENST00000617114.4:c.337C>T	ENSP00000478781.1:p.Leu113Phe
NM_001141973.2:c.1294C>T	NP_001135445.1:p.Leu432Phe
NM_001141974.2:c.1294C>T	NP_001135446.1:p.Leu432Phe
NM_022089.3:c.1309C>T	NP_071372.1:p.Leu437Phe
XM_005245809.1:c.1309C>T	XP_005245866.1:p.Leu437Phe
XM_005245810.1:c.1306C>T	XP_005245867.1:p.Leu436Phe
XM_005245811.1:c.1294C>T	XP_005245868.1:p.Leu432Phe
XM_005245812.1:c.1282C>T	XP_005245869.1:p.Leu428Phe
XM_005245813.1:c.1309C>T	XP_005245870.1:p.Leu437Phe
XM_005245815.1:c.1309C>T	XP_005245872.1:p.Leu437Phe
XM_006710512.1:c.1291C>T	XP_006710575.1:p.Leu431Phe
XM_006710513.1:c.1267C>T	XP_006710576.1:p.Leu423Phe
XM_011541128.1:c.1309C>T	XP_011539430.1:p.Leu437Phe
XM_011541129.1:c.1309C>T	XP_011539431.1:p.Leu437Phe
XM_017000844.1:c.1309C>T	XP_016856333.1:p.Leu437Phe
XM_017000845.1:c.1291C>T	XP_016856334.1:p.Leu431Phe
XM_017000846.1:c.1267C>T	XP_016856335.1:p.Leu423Phe
XM_017000847.1:c.1279C>T	XP_016856336.1:p.Leu427Phe
XM_017000848.1:c.1309C>T	XP_016856337.1:p.Leu437Phe
XM_017000849.1:c.1294C>T	XP_016856338.1:p.Leu432Phe
XM_017000850.1:c.1309C>T	XP_016856339.1:p.Leu437Phe
NM_022089.4:c.1309C>T MANE Select	NP_071372.1:p.Leu437Phe
NM_001141973.3:c.1294C>T	NP_001135445.1:p.Leu432Phe
NM_001141974.3:c.1294C>T	NP_001135446.1:p.Leu432Phe