Canonical Allele Identifier: CA449704216

Gene: EGFL8 PPT2-EGFL8

Linked Data

• dbSNP Id: rs780982490
• gnomAD v2: 6-32132373-C-T
• gnomAD v4: 6-32164596-C-T
• MyVariant Identifiers: chr6:g.32132373C>T (hg19) ; chr6:g.32164596C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32164596C>T , CM000668.2:g.32164596C>T	GRCh38
NC_000006.11:g.32132373C>T , CM000668.1:g.32132373C>T	GRCh37
NC_000006.10:g.32240351C>T	NCBI36
NG_042283.1:g.16145C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333845.11:c.-90C>T (EGFL8) MANE Select	ENSP00000333380.6:n.-90C>T
ENST00000333845.10:c.-90C>T (EGFL8)	ENSP00000333380.6:n.-90C>T
ENST00000421600.2:c.242C>T (PPT2-EGFL8)
ENST00000422437.5:c.783C>T (PPT2-EGFL8)	ENSP00000457534.1:p.His261=
ENST00000428388.6:c.783C>T (PPT2-EGFL8)	ENSP00000455087.1:p.His261=
ENST00000453656.6:n.914C>T (PPT2-EGFL8)
ENST00000479001.2:n.768C>T (PPT2-EGFL8)
ENST00000583227.5:c.*335C>T (PPT2-EGFL8)	ENSP00000461909.1:n.*335C>T
ENST00000585246.5:c.*318-1542C>T (PPT2-EGFL8)	ENSP00000463570.1:n.*318-1542C>T
NR_037861.1:n.1197C>T (PPT2-EGFL8)
NM_030652.4:c.-90C>T (EGFL8) MANE Select	NP_085155.1:n.-90C>T
NR_037860.2:n.2C>T (EGFL8)