Canonical Allele Identifier: CA449704428
Gene: EGFL8 HGNC NCBI
PPT2-EGFL8 HGNC NCBI

Linked Data

gnomAD v4: 6-32164654-C-T
MyVariant Identifiers: chr6:g.32132431C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32164654C>T , CM000668.2:g.32164654C>T GRCh38
NC_000006.11:g.32132431C>T , CM000668.1:g.32132431C>T GRCh37
NC_000006.10:g.32240409C>T NCBI36
NG_042283.1:g.16203C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000333845.11:c.-32C>T (EGFL8) MANE Select ENSP00000333380.6:n.-32C>T
ENST00000333845.10:c.-32C>T (EGFL8) ENSP00000333380.6:n.-32C>T
ENST00000395512.5:c.-56C>T (EGFL8) ENSP00000378888.1:n.-56C>T
ENST00000421600.2:c.300C>T (PPT2-EGFL8)
ENST00000422437.5:c.841C>T (PPT2-EGFL8) ENSP00000457534.1:p.Pro281Ser
ENST00000428388.6:c.841C>T (PPT2-EGFL8) ENSP00000455087.1:p.Pro281Ser
ENST00000453656.6:n.972C>T (PPT2-EGFL8)
ENST00000479001.2:n.826C>T (PPT2-EGFL8)
ENST00000583227.5:c.*393C>T (PPT2-EGFL8) ENSP00000461909.1:n.*393C>T
ENST00000585246.5:c.*318-1484C>T (PPT2-EGFL8) ENSP00000463570.1:n.*318-1484C>T
NM_030652.3:c.-32C>T (EGFL8) NP_085155.1:n.-32C>T
NR_037860.1:n.50C>T (EGFL8)
NR_037861.1:n.1255C>T (PPT2-EGFL8)
NM_030652.4:c.-32C>T (EGFL8) MANE Select NP_085155.1:n.-32C>T
NR_037860.2:n.60C>T (EGFL8)
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