Canonical Allele Identifier: CA3032509
Gene: PPA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 372222
dbSNP Id: rs146013446

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.105437964C>T , CM000666.2:g.105437964C>T GRCh38
NC_000004.11:g.106359121C>T , CM000666.1:g.106359121C>T GRCh37
NC_000004.10:g.106578570C>T NCBI36
NG_053007.1:g.41107G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000341695.10:c.514G>A MANE Select ENSP00000343885.5:p.Glu172Lys
ENST00000341695.9:c.514G>A ENSP00000343885.5:p.Glu172Lys
ENST00000348706.9:c.441+8419G>A ENSP00000313061.8:n.441+8419G>A
ENST00000351450.10:c.*236G>A ENSP00000273977.9:n.*236G>A
ENST00000354147.7:c.157+35930G>A ENSP00000340352.3:n.157+35930G>A
ENST00000432483.6:c.223-13642G>A ENSP00000389957.2:n.223-13642G>A
ENST00000457404.6:n.526G>A
ENST00000502833.5:n.523G>A
ENST00000503171.5:n.347+8419G>A
ENST00000504028.5:c.499G>A ENSP00000421177.1:p.Glu167Lys
ENST00000506815.5:c.386G>A ENSP00000422405.1:n.386G>A
ENST00000508518.5:c.450G>A
ENST00000509031.5:c.*273G>A ENSP00000423467.1:n.*273G>A
ENST00000509426.5:n.523G>A
ENST00000510015.5:c.295G>A ENSP00000423363.1:p.Glu99Lys
ENST00000514209.5:c.*163+8419G>A ENSP00000424988.1:n.*163+8419G>A
ENST00000515567.5:c.142+8419G>A
NM_006903.4:c.441+8419G>A NP_008834.3:n.441+8419G>A
NM_176866.2:c.223-13642G>A NP_789842.2:n.223-13642G>A
NM_176867.3:c.157+35930G>A NP_789843.2:n.157+35930G>A
NM_176869.2:c.514G>A NP_789845.1:p.Glu172Lys
NM_176869.3:c.514G>A MANE Select NP_789845.1:p.Glu172Lys