Canonical Allele Identifier: CA449704353

Gene: EGFL8 PPT2-EGFL8

Linked Data

• MyVariant Identifiers: chr6:g.32132410A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32164633A>T , CM000668.2:g.32164633A>T	GRCh38
NC_000006.11:g.32132410A>T , CM000668.1:g.32132410A>T	GRCh37
NC_000006.10:g.32240388A>T	NCBI36
NG_042283.1:g.16182A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333845.11:c.-53A>T (EGFL8) MANE Select	ENSP00000333380.6:n.-53A>T
ENST00000333845.10:c.-53A>T (EGFL8)	ENSP00000333380.6:n.-53A>T
ENST00000395512.5:c.-77A>T (EGFL8)	ENSP00000378888.1:n.-77A>T
ENST00000421600.2:c.279A>T (PPT2-EGFL8)
ENST00000422437.5:c.820A>T (PPT2-EGFL8)	ENSP00000457534.1:p.Lys274Ter
ENST00000428388.6:c.820A>T (PPT2-EGFL8)	ENSP00000455087.1:p.Lys274Ter
ENST00000453656.6:n.951A>T (PPT2-EGFL8)
ENST00000479001.2:n.805A>T (PPT2-EGFL8)
ENST00000583227.5:c.*372A>T (PPT2-EGFL8)	ENSP00000461909.1:n.*372A>T
ENST00000585246.5:c.*318-1505A>T (PPT2-EGFL8)	ENSP00000463570.1:n.*318-1505A>T
NM_030652.3:c.-53A>T (EGFL8)	NP_085155.1:n.-53A>T
NR_037860.1:n.29A>T (EGFL8)
NR_037861.1:n.1234A>T (PPT2-EGFL8)
NM_030652.4:c.-53A>T (EGFL8) MANE Select	NP_085155.1:n.-53A>T
NR_037860.2:n.39A>T (EGFL8)