Canonical Allele Identifier: CA449704225

Gene: EGFL8 PPT2-EGFL8

Linked Data

• gnomAD v4: 6-32164598-A-G
• MyVariant Identifiers: chr6:g.32132375A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32164598A>G , CM000668.2:g.32164598A>G	GRCh38
NC_000006.11:g.32132375A>G , CM000668.1:g.32132375A>G	GRCh37
NC_000006.10:g.32240353A>G	NCBI36
NG_042283.1:g.16147A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333845.11:c.-88A>G (EGFL8) MANE Select	ENSP00000333380.6:n.-88A>G
ENST00000333845.10:c.-88A>G (EGFL8)	ENSP00000333380.6:n.-88A>G
ENST00000421600.2:c.244A>G (PPT2-EGFL8)
ENST00000422437.5:c.785A>G (PPT2-EGFL8)	ENSP00000457534.1:p.Gln262Arg
ENST00000428388.6:c.785A>G (PPT2-EGFL8)	ENSP00000455087.1:p.Gln262Arg
ENST00000453656.6:n.916A>G (PPT2-EGFL8)
ENST00000479001.2:n.770A>G (PPT2-EGFL8)
ENST00000583227.5:c.*337A>G (PPT2-EGFL8)	ENSP00000461909.1:n.*337A>G
ENST00000585246.5:c.*318-1540A>G (PPT2-EGFL8)	ENSP00000463570.1:n.*318-1540A>G
NR_037861.1:n.1199A>G (PPT2-EGFL8)
NM_030652.4:c.-88A>G (EGFL8) MANE Select	NP_085155.1:n.-88A>G
NR_037860.2:n.4A>G (EGFL8)