Canonical Allele Identifier: CA338232796
Gene: ATP13A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16986498C>G , CM000663.2:g.16986498C>G GRCh38
NC_000001.10:g.17312993C>G , CM000663.1:g.17312993C>G GRCh37
NC_000001.9:g.17185580C>G NCBI36
NG_009054.1:g.30431G>C
NG_029688.1:g.89G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000326735.13:c.3370G>C MANE Select ENSP00000327214.8:p.Val1124Leu
ENST00000326735.12:c.3370G>C ENSP00000327214.8:p.Val1124Leu
ENST00000341676.9:c.3104-140G>C ENSP00000341115.5:n.3104-140G>C
ENST00000452699.5:c.3355G>C ENSP00000413307.1:p.Val1119Leu
ENST00000466561.1:n.1416G>C
ENST00000502418.1:c.824-140G>C ENSP00000423065.1:n.824-140G>C
NM_001141973.2:c.3355G>C NP_001135445.1:p.Val1119Leu
NM_001141974.2:c.3104-140G>C NP_001135446.1:n.3104-140G>C
NM_022089.3:c.3370G>C NP_071372.1:p.Val1124Leu
XM_005245809.1:c.3236-140G>C XP_005245866.1:n.3236-140G>C
XM_005245810.1:c.3233-140G>C XP_005245867.1:n.3233-140G>C
XM_005245811.1:c.3221-140G>C XP_005245868.1:n.3221-140G>C
XM_005245812.1:c.3209-140G>C XP_005245869.1:n.3209-140G>C
XM_005245813.1:c.3176-140G>C XP_005245870.1:n.3176-140G>C
XM_005245815.1:c.3119-140G>C XP_005245872.1:n.3119-140G>C
XM_006710512.1:c.3218-140G>C XP_006710575.1:n.3218-140G>C
XM_006710513.1:c.3194-140G>C XP_006710576.1:n.3194-140G>C
XM_011541128.1:c.3221-140G>C XP_011539430.1:n.3221-140G>C
XM_011541129.1:c.3029-140G>C XP_011539431.1:n.3029-140G>C
XM_017000844.1:c.3355G>C XP_016856333.1:p.Val1119Leu
XM_017000845.1:c.3352G>C XP_016856334.1:p.Val1118Leu
XM_017000846.1:c.3328G>C XP_016856335.1:p.Val1110Leu
XM_017000847.1:c.3325G>C XP_016856336.1:p.Val1109Leu
XM_017000848.1:c.3253G>C XP_016856337.1:p.Val1085Leu
XM_017000849.1:c.3238G>C XP_016856338.1:p.Val1080Leu
XM_017000850.1:c.3163G>C XP_016856339.1:p.Val1055Leu
NM_022089.4:c.3370G>C MANE Select NP_071372.1:p.Val1124Leu
NM_001141973.3:c.3355G>C NP_001135445.1:p.Val1119Leu
NM_001141974.3:c.3104-140G>C NP_001135446.1:n.3104-140G>C