Canonical Allele Identifier: CA449704184

Gene: EGFL8 PPT2-EGFL8

Linked Data

• MyVariant Identifiers: chr6:g.32132367C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32164590C>G , CM000668.2:g.32164590C>G	GRCh38
NC_000006.11:g.32132367C>G , CM000668.1:g.32132367C>G	GRCh37
NC_000006.10:g.32240345C>G	NCBI36
NG_042283.1:g.16139C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333845.10:c.-96C>G (EGFL8)	ENSP00000333380.6:n.-96C>G
ENST00000421600.2:c.236C>G (PPT2-EGFL8)
ENST00000422437.5:c.777C>G (PPT2-EGFL8)	ENSP00000457534.1:p.Pro259=
ENST00000428388.6:c.777C>G (PPT2-EGFL8)	ENSP00000455087.1:p.Pro259=
ENST00000453656.6:n.908C>G (PPT2-EGFL8)
ENST00000479001.2:n.762C>G (PPT2-EGFL8)
ENST00000583227.5:c.*329C>G (PPT2-EGFL8)	ENSP00000461909.1:n.*329C>G
ENST00000585246.5:c.*318-1548C>G (PPT2-EGFL8)	ENSP00000463570.1:n.*318-1548C>G
NR_037861.1:n.1191C>G (PPT2-EGFL8)