Canonical Allele Identifier: CA338232407

Gene: ATP13A2

Linked Data

• MyVariant Identifiers: chr1:g.17312804T>G (hg19) ; chr1:g.16986309T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16986309T>G , CM000663.2:g.16986309T>G	GRCh38
NC_000001.10:g.17312804T>G , CM000663.1:g.17312804T>G	GRCh37
NC_000001.9:g.17185391T>G	NCBI36
NG_009054.1:g.30620A>C
NG_029688.1:g.278A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326735.13:c.3455A>C MANE Select	ENSP00000327214.8:p.Lys1152Thr
ENST00000326735.12:c.3455A>C	ENSP00000327214.8:p.Lys1152Thr
ENST00000341676.9:c.3153A>C	ENSP00000341115.5:p.Gln1051His
ENST00000452699.5:c.3440A>C	ENSP00000413307.1:p.Lys1147Thr
ENST00000466561.1:n.1501A>C
ENST00000502418.1:c.873A>C	ENSP00000423065.1:p.Gln291His
NM_001141973.2:c.3440A>C	NP_001135445.1:p.Lys1147Thr
NM_001141974.2:c.3153A>C	NP_001135446.1:p.Gln1051His
NM_022089.3:c.3455A>C	NP_071372.1:p.Lys1152Thr
XM_005245809.1:c.3285A>C	XP_005245866.1:p.Gln1095His
XM_005245810.1:c.3282A>C	XP_005245867.1:p.Gln1094His
XM_005245811.1:c.3270A>C	XP_005245868.1:p.Gln1090His
XM_005245812.1:c.3258A>C	XP_005245869.1:p.Gln1086His
XM_005245813.1:c.3225A>C	XP_005245870.1:p.Gln1075His
XM_005245815.1:c.3168A>C	XP_005245872.1:p.Gln1056His
XM_006710512.1:c.3267A>C	XP_006710575.1:p.Gln1089His
XM_006710513.1:c.3243A>C	XP_006710576.1:p.Gln1081His
XM_011541128.1:c.3270A>C	XP_011539430.1:p.Gln1090His
XM_011541129.1:c.3078A>C	XP_011539431.1:p.Gln1026His
XM_017000844.1:c.3440A>C	XP_016856333.1:p.Lys1147Thr
XM_017000845.1:c.3437A>C	XP_016856334.1:p.Lys1146Thr
XM_017000846.1:c.3413A>C	XP_016856335.1:p.Lys1138Thr
XM_017000847.1:c.3410A>C	XP_016856336.1:p.Lys1137Thr
XM_017000848.1:c.3338A>C	XP_016856337.1:p.Lys1113Thr
XM_017000849.1:c.3323A>C	XP_016856338.1:p.Lys1108Thr
XM_017000850.1:c.3248A>C	XP_016856339.1:p.Lys1083Thr
NM_022089.4:c.3455A>C MANE Select	NP_071372.1:p.Lys1152Thr
NM_001141973.3:c.3440A>C	NP_001135445.1:p.Lys1147Thr
NM_001141974.3:c.3153A>C	NP_001135446.1:p.Gln1051His