Canonical Allele Identifier: CA449704428

Gene: EGFL8 PPT2-EGFL8

Linked Data

• gnomAD v4: 6-32164654-C-T
• MyVariant Identifiers: chr6:g.32132431C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32164654C>T , CM000668.2:g.32164654C>T	GRCh38
NC_000006.11:g.32132431C>T , CM000668.1:g.32132431C>T	GRCh37
NC_000006.10:g.32240409C>T	NCBI36
NG_042283.1:g.16203C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333845.11:c.-32C>T (EGFL8) MANE Select	ENSP00000333380.6:n.-32C>T
ENST00000333845.10:c.-32C>T (EGFL8)	ENSP00000333380.6:n.-32C>T
ENST00000395512.5:c.-56C>T (EGFL8)	ENSP00000378888.1:n.-56C>T
ENST00000421600.2:c.300C>T (PPT2-EGFL8)
ENST00000422437.5:c.841C>T (PPT2-EGFL8)	ENSP00000457534.1:p.Pro281Ser
ENST00000428388.6:c.841C>T (PPT2-EGFL8)	ENSP00000455087.1:p.Pro281Ser
ENST00000453656.6:n.972C>T (PPT2-EGFL8)
ENST00000479001.2:n.826C>T (PPT2-EGFL8)
ENST00000583227.5:c.*393C>T (PPT2-EGFL8)	ENSP00000461909.1:n.*393C>T
ENST00000585246.5:c.*318-1484C>T (PPT2-EGFL8)	ENSP00000463570.1:n.*318-1484C>T
NM_030652.3:c.-32C>T (EGFL8)	NP_085155.1:n.-32C>T
NR_037860.1:n.50C>T (EGFL8)
NR_037861.1:n.1255C>T (PPT2-EGFL8)
NM_030652.4:c.-32C>T (EGFL8) MANE Select	NP_085155.1:n.-32C>T
NR_037860.2:n.60C>T (EGFL8)