Canonical Allele Identifier: CA136901562

Gene: EGFL8 PPT2-EGFL8

Linked Data

• dbSNP Id: rs568874520
• gnomAD v2: 6-32132569-G-A
• gnomAD v3: 6-32164792-G-A
• gnomAD v4: 6-32164792-G-A
• MyVariant Identifiers: chr6:g.32132569G>A (hg19) ; chr6:g.32164792G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32164792G>A , CM000668.2:g.32164792G>A	GRCh38
NC_000006.11:g.32132569G>A , CM000668.1:g.32132569G>A	GRCh37
NC_000006.10:g.32240547G>A	NCBI36
NG_042283.1:g.16341G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333845.11:c.-29+135G>A (EGFL8) MANE Select	ENSP00000333380.6:n.-29+135G>A
ENST00000333845.10:c.-29+135G>A (EGFL8)	ENSP00000333380.6:n.-29+135G>A
ENST00000395512.5:c.-29+111G>A (EGFL8)	ENSP00000378888.1:n.-29+111G>A
ENST00000421600.2:c.327+111G>A (PPT2-EGFL8)
ENST00000422437.5:c.844+135G>A (PPT2-EGFL8)	ENSP00000457534.1:n.844+135G>A
ENST00000428388.6:c.844+135G>A (PPT2-EGFL8)	ENSP00000455087.1:n.844+135G>A
ENST00000432129.1:c.-29+111G>A (EGFL8)	ENSP00000401694.1:n.-29+111G>A
ENST00000453656.6:n.975+135G>A (PPT2-EGFL8)
ENST00000479001.2:n.829+135G>A (PPT2-EGFL8)
ENST00000583227.5:c.*396+135G>A (PPT2-EGFL8)	ENSP00000461909.1:n.*396+135G>A
ENST00000585246.5:c.*318-1346G>A (PPT2-EGFL8)	ENSP00000463570.1:n.*318-1346G>A
NM_030652.3:c.-29+135G>A (EGFL8)	NP_085155.1:n.-29+135G>A
NR_037860.1:n.77+111G>A (EGFL8)
NR_037861.1:n.1258+135G>A (PPT2-EGFL8)
NM_030652.4:c.-29+135G>A (EGFL8) MANE Select	NP_085155.1:n.-29+135G>A
NR_037860.2:n.87+111G>A (EGFL8)