Canonical Allele Identifier: CA363465571
Gene: PPT2 HGNC NCBI
PPT2-EGFL8 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32156647G>T , CM000668.2:g.32156647G>T GRCh38
NC_000006.11:g.32124424G>T , CM000668.1:g.32124424G>T GRCh37
NC_000006.10:g.32232402G>T NCBI36
NG_042283.1:g.8196G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000324816.11:c.541+669G>T (PPT2) MANE Select ENSP00000320528.6:n.541+669G>T
ENST00000324816.10:c.541+669G>T (PPT2) ENSP00000320528.6:n.541+669G>T
ENST00000361568.6:c.559+669G>T (PPT2) ENSP00000354608.2:n.559+669G>T
ENST00000375137.6:c.541+669G>T (PPT2) ENSP00000364279.2:n.541+669G>T
ENST00000375143.6:c.541+669G>T (PPT2) ENSP00000364285.2:n.541+669G>T
ENST00000395523.5:c.541+669G>T (PPT2) ENSP00000378894.1:n.541+669G>T
ENST00000422437.5:c.541+669G>T (PPT2-EGFL8) ENSP00000457534.1:n.541+669G>T
ENST00000424499.1:c.307+669G>T (PPT2) ENSP00000409877.1:n.307+669G>T
ENST00000428388.6:c.541+669G>T (PPT2-EGFL8) ENSP00000455087.1:n.541+669G>T
ENST00000436118.2:c.*93+669G>T (PPT2) ENSP00000395456.2:n.*93+669G>T
ENST00000453656.6:n.672+669G>T (PPT2-EGFL8)
ENST00000478521.5:n.490+669G>T (PPT2)
ENST00000493548.5:n.677+669G>T (PPT2)
ENST00000583227.5:c.*93+669G>T (PPT2-EGFL8) ENSP00000461909.1:n.*93+669G>T
ENST00000585246.5:c.*93+669G>T (PPT2-EGFL8) ENSP00000463570.1:n.*93+669G>T
NM_001204103.1:c.541+669G>T (PPT2) NP_001191032.1:n.541+669G>T
NM_005155.6:c.541+669G>T (PPT2) NP_005146.4:n.541+669G>T
NM_138717.2:c.559+669G>T (PPT2) NP_619731.2:n.559+669G>T
NR_037861.1:n.955+669G>T (PPT2-EGFL8)
NM_005155.7:c.541+669G>T (PPT2) MANE Select NP_005146.4:n.541+669G>T
NM_001204103.2:c.541+669G>T (PPT2) NP_001191032.1:n.541+669G>T
NM_138717.3:c.559+669G>T (PPT2) NP_619731.2:n.559+669G>T
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