Canonical Allele Identifier: CA338232119

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17312752C>G (hg19) ; chr1:g.16986257C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986257C>G , CM000663.2:g.16986257C>G	GRCh38
NC_000001.10:g.17312752C>G , CM000663.1:g.17312752C>G	GRCh37
NC_000001.9:g.17185339C>G	NCBI36
NG_009054.1:g.30672G>C
NG_029688.1:g.330G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000326735.13:c.3507G>C MANE Select	ENSP00000327214.8:p.Gln1169His
ENST00000326735.12:c.3507G>C	ENSP00000327214.8:p.Gln1169His
ENST00000341676.9:c.3205G>C	ENSP00000341115.5:p.Ala1069Pro
ENST00000452699.5:c.3492G>C	ENSP00000413307.1:p.Gln1164His
ENST00000466561.1:n.1553G>C
ENST00000502418.1:c.925G>C	ENSP00000423065.1:p.Ala309Pro
NM_001141973.2:c.3492G>C	NP_001135445.1:p.Gln1164His
NM_001141974.2:c.3205G>C	NP_001135446.1:p.Ala1069Pro
NM_022089.3:c.3507G>C	NP_071372.1:p.Gln1169His
XM_005245809.1:c.3337G>C	XP_005245866.1:p.Ala1113Pro
XM_005245810.1:c.3334G>C	XP_005245867.1:p.Ala1112Pro
XM_005245811.1:c.3322G>C	XP_005245868.1:p.Ala1108Pro
XM_005245812.1:c.3310G>C	XP_005245869.1:p.Ala1104Pro
XM_005245813.1:c.3277G>C	XP_005245870.1:p.Ala1093Pro
XM_005245815.1:c.3220G>C	XP_005245872.1:p.Ala1074Pro
XM_006710512.1:c.3319G>C	XP_006710575.1:p.Ala1107Pro
XM_006710513.1:c.3295G>C	XP_006710576.1:p.Ala1099Pro
XM_011541128.1:c.3322G>C	XP_011539430.1:p.Ala1108Pro
XM_011541129.1:c.3130G>C	XP_011539431.1:p.Ala1044Pro
XM_017000844.1:c.3492G>C	XP_016856333.1:p.Gln1164His
XM_017000845.1:c.3489G>C	XP_016856334.1:p.Gln1163His
XM_017000846.1:c.3465G>C	XP_016856335.1:p.Gln1155His
XM_017000847.1:c.3462G>C	XP_016856336.1:p.Gln1154His
XM_017000848.1:c.3390G>C	XP_016856337.1:p.Gln1130His
XM_017000849.1:c.3375G>C	XP_016856338.1:p.Gln1125His
XM_017000850.1:c.3300G>C	XP_016856339.1:p.Gln1100His
NM_022089.4:c.3507G>C MANE Select	NP_071372.1:p.Gln1169His
NM_001141973.3:c.3492G>C	NP_001135445.1:p.Gln1164His
NM_001141974.3:c.3205G>C	NP_001135446.1:p.Ala1069Pro