Canonical Allele Identifier: CA3737155

Gene: EGFL8 PPT2-EGFL8

Linked Data

• dbSNP Id: rs769647999
• ExAC: 6:32132384 T / A
• gnomAD v2: 6-32132384-T-A
• gnomAD v4: 6-32164607-T-A
• MyVariant Identifiers: chr6:g.32132384T>A (hg19) ; chr6:g.32164607T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32164607T>A , CM000668.2:g.32164607T>A	GRCh38
NC_000006.11:g.32132384T>A , CM000668.1:g.32132384T>A	GRCh37
NC_000006.10:g.32240362T>A	NCBI36
NG_042283.1:g.16156T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333845.11:c.-79T>A (EGFL8) MANE Select	ENSP00000333380.6:n.-79T>A
ENST00000333845.10:c.-79T>A (EGFL8)	ENSP00000333380.6:n.-79T>A
ENST00000395512.5:c.-103T>A (EGFL8)	ENSP00000378888.1:n.-103T>A
ENST00000421600.2:c.253T>A (PPT2-EGFL8)
ENST00000422437.5:c.794T>A (PPT2-EGFL8)	ENSP00000457534.1:p.Leu265Gln
ENST00000428388.6:c.794T>A (PPT2-EGFL8)	ENSP00000455087.1:p.Leu265Gln
ENST00000453656.6:n.925T>A (PPT2-EGFL8)
ENST00000479001.2:n.779T>A (PPT2-EGFL8)
ENST00000583227.5:c.*346T>A (PPT2-EGFL8)	ENSP00000461909.1:n.*346T>A
ENST00000585246.5:c.*318-1531T>A (PPT2-EGFL8)	ENSP00000463570.1:n.*318-1531T>A
NM_030652.3:c.-79T>A (EGFL8)	NP_085155.1:n.-79T>A
NR_037860.1:n.3T>A (EGFL8)
NR_037861.1:n.1208T>A (PPT2-EGFL8)
NM_030652.4:c.-79T>A (EGFL8) MANE Select	NP_085155.1:n.-79T>A
NR_037860.2:n.13T>A (EGFL8)