Canonical Allele Identifier: CA449704190

Gene: EGFL8 PPT2-EGFL8

Linked Data

• MyVariant Identifiers: chr6:g.32132368A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32164591A>T , CM000668.2:g.32164591A>T	GRCh38
NC_000006.11:g.32132368A>T , CM000668.1:g.32132368A>T	GRCh37
NC_000006.10:g.32240346A>T	NCBI36
NG_042283.1:g.16140A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333845.10:c.-95A>T (EGFL8)	ENSP00000333380.6:n.-95A>T
ENST00000421600.2:c.237A>T (PPT2-EGFL8)
ENST00000422437.5:c.778A>T (PPT2-EGFL8)	ENSP00000457534.1:p.Thr260Ser
ENST00000428388.6:c.778A>T (PPT2-EGFL8)	ENSP00000455087.1:p.Thr260Ser
ENST00000453656.6:n.909A>T (PPT2-EGFL8)
ENST00000479001.2:n.763A>T (PPT2-EGFL8)
ENST00000583227.5:c.*330A>T (PPT2-EGFL8)	ENSP00000461909.1:n.*330A>T
ENST00000585246.5:c.*318-1547A>T (PPT2-EGFL8)	ENSP00000463570.1:n.*318-1547A>T
NR_037861.1:n.1192A>T (PPT2-EGFL8)