Canonical Allele Identifier: CA449704161

Gene: EGFL8 PPT2-EGFL8

Linked Data

• MyVariant Identifiers: chr6:g.32132361C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32164584C>T , CM000668.2:g.32164584C>T	GRCh38
NC_000006.11:g.32132361C>T , CM000668.1:g.32132361C>T	GRCh37
NC_000006.10:g.32240339C>T	NCBI36
NG_042283.1:g.16133C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333845.10:c.-102C>T (EGFL8)	ENSP00000333380.6:n.-102C>T
ENST00000421600.2:c.230C>T (PPT2-EGFL8)
ENST00000422437.5:c.771C>T (PPT2-EGFL8)	ENSP00000457534.1:p.Ala257=
ENST00000428388.6:c.771C>T (PPT2-EGFL8)	ENSP00000455087.1:p.Ala257=
ENST00000453656.6:n.902C>T (PPT2-EGFL8)
ENST00000479001.2:n.756C>T (PPT2-EGFL8)
ENST00000583227.5:c.*323C>T (PPT2-EGFL8)	ENSP00000461909.1:n.*323C>T
ENST00000585246.5:c.*318-1554C>T (PPT2-EGFL8)	ENSP00000463570.1:n.*318-1554C>T
NR_037861.1:n.1185C>T (PPT2-EGFL8)