Canonical Allele Identifier: CA449704165

Gene: EGFL8 PPT2-EGFL8

Linked Data

• gnomAD v4: 6-32164585-A-T
• MyVariant Identifiers: chr6:g.32132362A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32164585A>T , CM000668.2:g.32164585A>T	GRCh38
NC_000006.11:g.32132362A>T , CM000668.1:g.32132362A>T	GRCh37
NC_000006.10:g.32240340A>T	NCBI36
NG_042283.1:g.16134A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333845.10:c.-101A>T (EGFL8)	ENSP00000333380.6:n.-101A>T
ENST00000421600.2:c.231A>T (PPT2-EGFL8)
ENST00000422437.5:c.772A>T (PPT2-EGFL8)	ENSP00000457534.1:p.Arg258Trp
ENST00000428388.6:c.772A>T (PPT2-EGFL8)	ENSP00000455087.1:p.Arg258Trp
ENST00000453656.6:n.903A>T (PPT2-EGFL8)
ENST00000479001.2:n.757A>T (PPT2-EGFL8)
ENST00000583227.5:c.*324A>T (PPT2-EGFL8)	ENSP00000461909.1:n.*324A>T
ENST00000585246.5:c.*318-1553A>T (PPT2-EGFL8)	ENSP00000463570.1:n.*318-1553A>T
NR_037861.1:n.1186A>T (PPT2-EGFL8)