Canonical Allele Identifier: CA449704306

Gene: EGFL8 PPT2-EGFL8

Linked Data

• gnomAD v4: 6-32164620-G-T
• MyVariant Identifiers: chr6:g.32132397G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32164620G>T , CM000668.2:g.32164620G>T	GRCh38
NC_000006.11:g.32132397G>T , CM000668.1:g.32132397G>T	GRCh37
NC_000006.10:g.32240375G>T	NCBI36
NG_042283.1:g.16169G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333845.11:c.-66G>T (EGFL8) MANE Select	ENSP00000333380.6:n.-66G>T
ENST00000333845.10:c.-66G>T (EGFL8)	ENSP00000333380.6:n.-66G>T
ENST00000395512.5:c.-90G>T (EGFL8)	ENSP00000378888.1:n.-90G>T
ENST00000421600.2:c.266G>T (PPT2-EGFL8)
ENST00000422437.5:c.807G>T (PPT2-EGFL8)	ENSP00000457534.1:p.Arg269Ser
ENST00000428388.6:c.807G>T (PPT2-EGFL8)	ENSP00000455087.1:p.Arg269Ser
ENST00000453656.6:n.938G>T (PPT2-EGFL8)
ENST00000479001.2:n.792G>T (PPT2-EGFL8)
ENST00000583227.5:c.*359G>T (PPT2-EGFL8)	ENSP00000461909.1:n.*359G>T
ENST00000585246.5:c.*318-1518G>T (PPT2-EGFL8)	ENSP00000463570.1:n.*318-1518G>T
NM_030652.3:c.-66G>T (EGFL8)	NP_085155.1:n.-66G>T
NR_037860.1:n.16G>T (EGFL8)
NR_037861.1:n.1221G>T (PPT2-EGFL8)
NM_030652.4:c.-66G>T (EGFL8) MANE Select	NP_085155.1:n.-66G>T
NR_037860.2:n.26G>T (EGFL8)