Canonical Allele Identifier: CA449704292

Gene: EGFL8 PPT2-EGFL8

Linked Data

• dbSNP Id: rs1264794919
• gnomAD v2: 6-32132393-T-C
• gnomAD v4: 6-32164616-T-C
• MyVariant Identifiers: chr6:g.32132393T>C (hg19) ; chr6:g.32164616T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32164616T>C , CM000668.2:g.32164616T>C	GRCh38
NC_000006.11:g.32132393T>C , CM000668.1:g.32132393T>C	GRCh37
NC_000006.10:g.32240371T>C	NCBI36
NG_042283.1:g.16165T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333845.11:c.-70T>C (EGFL8) MANE Select	ENSP00000333380.6:n.-70T>C
ENST00000333845.10:c.-70T>C (EGFL8)	ENSP00000333380.6:n.-70T>C
ENST00000395512.5:c.-94T>C (EGFL8)	ENSP00000378888.1:n.-94T>C
ENST00000421600.2:c.262T>C (PPT2-EGFL8)
ENST00000422437.5:c.803T>C (PPT2-EGFL8)	ENSP00000457534.1:p.Leu268Pro
ENST00000428388.6:c.803T>C (PPT2-EGFL8)	ENSP00000455087.1:p.Leu268Pro
ENST00000453656.6:n.934T>C (PPT2-EGFL8)
ENST00000479001.2:n.788T>C (PPT2-EGFL8)
ENST00000583227.5:c.*355T>C (PPT2-EGFL8)	ENSP00000461909.1:n.*355T>C
ENST00000585246.5:c.*318-1522T>C (PPT2-EGFL8)	ENSP00000463570.1:n.*318-1522T>C
NM_030652.3:c.-70T>C (EGFL8)	NP_085155.1:n.-70T>C
NR_037860.1:n.12T>C (EGFL8)
NR_037861.1:n.1217T>C (PPT2-EGFL8)
NM_030652.4:c.-70T>C (EGFL8) MANE Select	NP_085155.1:n.-70T>C
NR_037860.2:n.22T>C (EGFL8)