Canonical Allele Identifier: CA1619449973
Gene: EGFL8 HGNC NCBI
PPT2-EGFL8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32164611T= , CM000668.2:g.32164611T= GRCh38
NC_000006.11:g.32132388T= , CM000668.1:g.32132388T= GRCh37
NC_000006.10:g.32240366T= NCBI36
NG_042283.1:g.16160T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000333845.11:c.-75T= (EGFL8) MANE Select ENSP00000333380.6:n.-75T=
ENST00000333845.10:c.-75T= (EGFL8) ENSP00000333380.6:n.-75T=
ENST00000395512.5:c.-99T= (EGFL8) ENSP00000378888.1:n.-99T=
ENST00000421600.2:c.257T= (PPT2-EGFL8)
ENST00000422437.5:c.798T= (PPT2-EGFL8) ENSP00000457534.1:p.Leu266=
ENST00000428388.6:c.798T= (PPT2-EGFL8) ENSP00000455087.1:p.Leu266=
ENST00000453656.6:n.929T= (PPT2-EGFL8)
ENST00000479001.2:n.783T= (PPT2-EGFL8)
ENST00000583227.5:c.*350T= (PPT2-EGFL8) ENSP00000461909.1:n.*350T=
ENST00000585246.5:c.*318-1527T= (PPT2-EGFL8) ENSP00000463570.1:n.*318-1527T=
NM_030652.3:c.-75T= (EGFL8) NP_085155.1:n.-75T=
NR_037860.1:n.7T= (EGFL8)
NR_037861.1:n.1212T= (PPT2-EGFL8)
NM_030652.4:c.-75T= (EGFL8) MANE Select NP_085155.1:n.-75T=
NR_037860.2:n.17T= (EGFL8)