Canonical Allele Identifier: CA136901558

Gene: EGFL8 PPT2-EGFL8

Linked Data

• dbSNP Id: rs550825693
• gnomAD v2: 6-32132568-C-T
• gnomAD v3: 6-32164791-C-T
• gnomAD v4: 6-32164791-C-T
• MyVariant Identifiers: chr6:g.32132568C>T (hg19) ; chr6:g.32164791C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32164791C>T , CM000668.2:g.32164791C>T	GRCh38
NC_000006.11:g.32132568C>T , CM000668.1:g.32132568C>T	GRCh37
NC_000006.10:g.32240546C>T	NCBI36
NG_042283.1:g.16340C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333845.11:c.-29+134C>T (EGFL8) MANE Select	ENSP00000333380.6:n.-29+134C>T
ENST00000333845.10:c.-29+134C>T (EGFL8)	ENSP00000333380.6:n.-29+134C>T
ENST00000395512.5:c.-29+110C>T (EGFL8)	ENSP00000378888.1:n.-29+110C>T
ENST00000421600.2:c.327+110C>T (PPT2-EGFL8)
ENST00000422437.5:c.844+134C>T (PPT2-EGFL8)	ENSP00000457534.1:n.844+134C>T
ENST00000428388.6:c.844+134C>T (PPT2-EGFL8)	ENSP00000455087.1:n.844+134C>T
ENST00000432129.1:c.-29+110C>T (EGFL8)	ENSP00000401694.1:n.-29+110C>T
ENST00000453656.6:n.975+134C>T (PPT2-EGFL8)
ENST00000479001.2:n.829+134C>T (PPT2-EGFL8)
ENST00000583227.5:c.*396+134C>T (PPT2-EGFL8)	ENSP00000461909.1:n.*396+134C>T
ENST00000585246.5:c.*318-1347C>T (PPT2-EGFL8)	ENSP00000463570.1:n.*318-1347C>T
NM_030652.3:c.-29+134C>T (EGFL8)	NP_085155.1:n.-29+134C>T
NR_037860.1:n.77+110C>T (EGFL8)
NR_037861.1:n.1258+134C>T (PPT2-EGFL8)
NM_030652.4:c.-29+134C>T (EGFL8) MANE Select	NP_085155.1:n.-29+134C>T
NR_037860.2:n.87+110C>T (EGFL8)