Canonical Allele Identifier: CA1619449888
Gene: PPT2-EGFL8 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32164352G= , CM000668.2:g.32164352G= GRCh38
NC_000006.11:g.32132129G= , CM000668.1:g.32132129G= GRCh37
NC_000006.10:g.32240107G= NCBI36
NG_042283.1:g.15901G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000421600.2:c.225-227G=
ENST00000422437.5:c.766-227G= ENSP00000457534.1:n.766-227G=
ENST00000428388.6:c.766-227G= ENSP00000455087.1:n.766-227G=
ENST00000453656.6:n.897-227G=
ENST00000479001.2:n.751-227G=
ENST00000583227.5:c.*318-227G= ENSP00000461909.1:n.*318-227G=
ENST00000585246.5:c.*317+1730G= ENSP00000463570.1:n.*317+1730G=
NR_037861.1:n.1180-227G=
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