Canonical Allele Identifier: CA449704413

Gene: EGFL8 PPT2-EGFL8

Linked Data

• MyVariant Identifiers: chr6:g.32132428A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32164651A>C , CM000668.2:g.32164651A>C	GRCh38
NC_000006.11:g.32132428A>C , CM000668.1:g.32132428A>C	GRCh37
NC_000006.10:g.32240406A>C	NCBI36
NG_042283.1:g.16200A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333845.11:c.-35A>C (EGFL8) MANE Select	ENSP00000333380.6:n.-35A>C
ENST00000333845.10:c.-35A>C (EGFL8)	ENSP00000333380.6:n.-35A>C
ENST00000395512.5:c.-59A>C (EGFL8)	ENSP00000378888.1:n.-59A>C
ENST00000421600.2:c.297A>C (PPT2-EGFL8)
ENST00000422437.5:c.838A>C (PPT2-EGFL8)	ENSP00000457534.1:p.Lys280Gln
ENST00000428388.6:c.838A>C (PPT2-EGFL8)	ENSP00000455087.1:p.Lys280Gln
ENST00000453656.6:n.969A>C (PPT2-EGFL8)
ENST00000479001.2:n.823A>C (PPT2-EGFL8)
ENST00000583227.5:c.*390A>C (PPT2-EGFL8)	ENSP00000461909.1:n.*390A>C
ENST00000585246.5:c.*318-1487A>C (PPT2-EGFL8)	ENSP00000463570.1:n.*318-1487A>C
NM_030652.3:c.-35A>C (EGFL8)	NP_085155.1:n.-35A>C
NR_037860.1:n.47A>C (EGFL8)
NR_037861.1:n.1252A>C (PPT2-EGFL8)
NM_030652.4:c.-35A>C (EGFL8) MANE Select	NP_085155.1:n.-35A>C
NR_037860.2:n.57A>C (EGFL8)