Canonical Allele Identifier: CA449704188

Gene: EGFL8 PPT2-EGFL8

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333845.10:c.-95A>C (EGFL8)	ENSP00000333380.6:n.-95A>C
ENST00000421600.2:c.237A>C (PPT2-EGFL8)
ENST00000422437.5:c.778A>C (PPT2-EGFL8)	ENSP00000457534.1:p.Thr260Pro
ENST00000428388.6:c.778A>C (PPT2-EGFL8)	ENSP00000455087.1:p.Thr260Pro
ENST00000453656.6:n.909A>C (PPT2-EGFL8)
ENST00000479001.2:n.763A>C (PPT2-EGFL8)
ENST00000583227.5:c.*330A>C (PPT2-EGFL8)	ENSP00000461909.1:n.*330A>C
ENST00000585246.5:c.*318-1547A>C (PPT2-EGFL8)	ENSP00000463570.1:n.*318-1547A>C
NR_037861.1:n.1192A>C (PPT2-EGFL8)