Canonical Allele Identifier: CA1619449987

Gene: EGFL8 PPT2-EGFL8

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32164653G= , CM000668.2:g.32164653G=	GRCh38
NC_000006.11:g.32132430G= , CM000668.1:g.32132430G=	GRCh37
NC_000006.10:g.32240408G=	NCBI36
NG_042283.1:g.16202G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333845.11:c.-33G= (EGFL8) MANE Select	ENSP00000333380.6:n.-33G=
ENST00000333845.10:c.-33G= (EGFL8)	ENSP00000333380.6:n.-33G=
ENST00000395512.5:c.-57G= (EGFL8)	ENSP00000378888.1:n.-57G=
ENST00000421600.2:c.299G= (PPT2-EGFL8)
ENST00000422437.5:c.840G= (PPT2-EGFL8)	ENSP00000457534.1:p.Lys280=
ENST00000428388.6:c.840G= (PPT2-EGFL8)	ENSP00000455087.1:p.Lys280=
ENST00000453656.6:n.971G= (PPT2-EGFL8)
ENST00000479001.2:n.825G= (PPT2-EGFL8)
ENST00000583227.5:c.*392G= (PPT2-EGFL8)	ENSP00000461909.1:n.*392G=
ENST00000585246.5:c.*318-1485G= (PPT2-EGFL8)	ENSP00000463570.1:n.*318-1485G=
NM_030652.3:c.-33G= (EGFL8)	NP_085155.1:n.-33G=
NR_037860.1:n.49G= (EGFL8)
NR_037861.1:n.1254G= (PPT2-EGFL8)
NM_030652.4:c.-33G= (EGFL8) MANE Select	NP_085155.1:n.-33G=
NR_037860.2:n.59G= (EGFL8)