Canonical Allele Identifier: CA449704169
Gene: EGFL8 HGNC NCBI
PPT2-EGFL8 HGNC NCBI

Linked Data

dbSNP Id: rs1362009626
gnomAD v2: 6-32132364-G-A
gnomAD v4: 6-32164587-G-A
MyVariant Identifiers: chr6:g.32132364G>A (hg19) chr6:g.32164587G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32164587G>A , CM000668.2:g.32164587G>A GRCh38
NC_000006.11:g.32132364G>A , CM000668.1:g.32132364G>A GRCh37
NC_000006.10:g.32240342G>A NCBI36
NG_042283.1:g.16136G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000333845.10:c.-99G>A (EGFL8) ENSP00000333380.6:n.-99G>A
ENST00000421600.2:c.233G>A (PPT2-EGFL8)
ENST00000422437.5:c.774G>A (PPT2-EGFL8) ENSP00000457534.1:p.Arg258=
ENST00000428388.6:c.774G>A (PPT2-EGFL8) ENSP00000455087.1:p.Arg258=
ENST00000453656.6:n.905G>A (PPT2-EGFL8)
ENST00000479001.2:n.759G>A (PPT2-EGFL8)
ENST00000583227.5:c.*326G>A (PPT2-EGFL8) ENSP00000461909.1:n.*326G>A
ENST00000585246.5:c.*318-1551G>A (PPT2-EGFL8) ENSP00000463570.1:n.*318-1551G>A
NR_037861.1:n.1188G>A (PPT2-EGFL8)
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