Canonical Allele Identifier: CA449704278

Gene: EGFL8 PPT2-EGFL8

Linked Data

• gnomAD v4: 6-32164612-C-G
• MyVariant Identifiers: chr6:g.32132389C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32164612C>G , CM000668.2:g.32164612C>G	GRCh38
NC_000006.11:g.32132389C>G , CM000668.1:g.32132389C>G	GRCh37
NC_000006.10:g.32240367C>G	NCBI36
NG_042283.1:g.16161C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333845.11:c.-74C>G (EGFL8) MANE Select	ENSP00000333380.6:n.-74C>G
ENST00000333845.10:c.-74C>G (EGFL8)	ENSP00000333380.6:n.-74C>G
ENST00000395512.5:c.-98C>G (EGFL8)	ENSP00000378888.1:n.-98C>G
ENST00000421600.2:c.258C>G (PPT2-EGFL8)
ENST00000422437.5:c.799C>G (PPT2-EGFL8)	ENSP00000457534.1:p.Leu267Val
ENST00000428388.6:c.799C>G (PPT2-EGFL8)	ENSP00000455087.1:p.Leu267Val
ENST00000453656.6:n.930C>G (PPT2-EGFL8)
ENST00000479001.2:n.784C>G (PPT2-EGFL8)
ENST00000583227.5:c.*351C>G (PPT2-EGFL8)	ENSP00000461909.1:n.*351C>G
ENST00000585246.5:c.*318-1526C>G (PPT2-EGFL8)	ENSP00000463570.1:n.*318-1526C>G
NM_030652.3:c.-74C>G (EGFL8)	NP_085155.1:n.-74C>G
NR_037860.1:n.8C>G (EGFL8)
NR_037861.1:n.1213C>G (PPT2-EGFL8)
NM_030652.4:c.-74C>G (EGFL8) MANE Select	NP_085155.1:n.-74C>G
NR_037860.2:n.18C>G (EGFL8)