Canonical Allele Identifier: CA1619449834
Gene: PPT2-EGFL8 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32164180G= , CM000668.2:g.32164180G= GRCh38
NC_000006.11:g.32131957G= , CM000668.1:g.32131957G= GRCh37
NC_000006.10:g.32239935G= NCBI36
NG_042283.1:g.15729G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000421600.2:c.225-399G=
ENST00000422437.5:c.766-399G= ENSP00000457534.1:n.766-399G=
ENST00000428388.6:c.766-399G= ENSP00000455087.1:n.766-399G=
ENST00000453656.6:n.897-399G=
ENST00000479001.2:n.751-399G=
ENST00000583227.5:c.*318-399G= ENSP00000461909.1:n.*318-399G=
ENST00000585246.5:c.*317+1558G= ENSP00000463570.1:n.*317+1558G=
NR_037861.1:n.1180-399G=
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