Canonical Allele Identifier: CA2678108302

Gene: EGFL8 PPT2-EGFL8

Linked Data

• gnomAD v4: 6-32164669-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32164669G>T , CM000668.2:g.32164669G>T	GRCh38
NC_000006.11:g.32132446G>T , CM000668.1:g.32132446G>T	GRCh37
NC_000006.10:g.32240424G>T	NCBI36
NG_042283.1:g.16218G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333845.11:c.-29+12G>T (EGFL8) MANE Select	ENSP00000333380.6:n.-29+12G>T
ENST00000333845.10:c.-29+12G>T (EGFL8)	ENSP00000333380.6:n.-29+12G>T
ENST00000395512.5:c.-41G>T (EGFL8)	ENSP00000378888.1:n.-41G>T
ENST00000421600.2:c.315G>T (PPT2-EGFL8)
ENST00000422437.5:c.844+12G>T (PPT2-EGFL8)	ENSP00000457534.1:n.844+12G>T
ENST00000428388.6:c.844+12G>T (PPT2-EGFL8)	ENSP00000455087.1:n.844+12G>T
ENST00000432129.1:c.-41G>T (EGFL8)	ENSP00000401694.1:n.-41G>T
ENST00000453656.6:n.975+12G>T (PPT2-EGFL8)
ENST00000479001.2:n.829+12G>T (PPT2-EGFL8)
ENST00000583227.5:c.*396+12G>T (PPT2-EGFL8)	ENSP00000461909.1:n.*396+12G>T
ENST00000585246.5:c.*318-1469G>T (PPT2-EGFL8)	ENSP00000463570.1:n.*318-1469G>T
NM_030652.3:c.-29+12G>T (EGFL8)	NP_085155.1:n.-29+12G>T
NR_037860.1:n.65G>T (EGFL8)
NR_037861.1:n.1258+12G>T (PPT2-EGFL8)
NM_030652.4:c.-29+12G>T (EGFL8) MANE Select	NP_085155.1:n.-29+12G>T
NR_037860.2:n.75G>T (EGFL8)