Canonical Allele Identifier: CA449704241
Gene: EGFL8 HGNC NCBI
PPT2-EGFL8 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.32132379T>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32164602T>A , CM000668.2:g.32164602T>A GRCh38
NC_000006.11:g.32132379T>A , CM000668.1:g.32132379T>A GRCh37
NC_000006.10:g.32240357T>A NCBI36
NG_042283.1:g.16151T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000333845.11:c.-84T>A (EGFL8) MANE Select ENSP00000333380.6:n.-84T>A
ENST00000333845.10:c.-84T>A (EGFL8) ENSP00000333380.6:n.-84T>A
ENST00000421600.2:c.248T>A (PPT2-EGFL8)
ENST00000422437.5:c.789T>A (PPT2-EGFL8) ENSP00000457534.1:p.Ser263=
ENST00000428388.6:c.789T>A (PPT2-EGFL8) ENSP00000455087.1:p.Ser263=
ENST00000453656.6:n.920T>A (PPT2-EGFL8)
ENST00000479001.2:n.774T>A (PPT2-EGFL8)
ENST00000583227.5:c.*341T>A (PPT2-EGFL8) ENSP00000461909.1:n.*341T>A
ENST00000585246.5:c.*318-1536T>A (PPT2-EGFL8) ENSP00000463570.1:n.*318-1536T>A
NR_037861.1:n.1203T>A (PPT2-EGFL8)
NM_030652.4:c.-84T>A (EGFL8) MANE Select NP_085155.1:n.-84T>A
NR_037860.2:n.8T>A (EGFL8)
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