Canonical Allele Identifier: CA449704240

Gene: EGFL8 PPT2-EGFL8

Linked Data

• gnomAD v4: 6-32164601-C-A
• MyVariant Identifiers: chr6:g.32132378C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32164601C>A , CM000668.2:g.32164601C>A	GRCh38
NC_000006.11:g.32132378C>A , CM000668.1:g.32132378C>A	GRCh37
NC_000006.10:g.32240356C>A	NCBI36
NG_042283.1:g.16150C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333845.11:c.-85C>A (EGFL8) MANE Select	ENSP00000333380.6:n.-85C>A
ENST00000333845.10:c.-85C>A (EGFL8)	ENSP00000333380.6:n.-85C>A
ENST00000421600.2:c.247C>A (PPT2-EGFL8)
ENST00000422437.5:c.788C>A (PPT2-EGFL8)	ENSP00000457534.1:p.Ser263Tyr
ENST00000428388.6:c.788C>A (PPT2-EGFL8)	ENSP00000455087.1:p.Ser263Tyr
ENST00000453656.6:n.919C>A (PPT2-EGFL8)
ENST00000479001.2:n.773C>A (PPT2-EGFL8)
ENST00000583227.5:c.*340C>A (PPT2-EGFL8)	ENSP00000461909.1:n.*340C>A
ENST00000585246.5:c.*318-1537C>A (PPT2-EGFL8)	ENSP00000463570.1:n.*318-1537C>A
NR_037861.1:n.1202C>A (PPT2-EGFL8)
NM_030652.4:c.-85C>A (EGFL8) MANE Select	NP_085155.1:n.-85C>A
NR_037860.2:n.7C>A (EGFL8)