Canonical Allele Identifier: CA449704176

Gene: EGFL8 PPT2-EGFL8

Linked Data

• dbSNP Id: rs1784359687
• gnomAD v3: 6-32164588-C-G
• gnomAD v4: 6-32164588-C-G
• MyVariant Identifiers: chr6:g.32132365C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32164588C>G , CM000668.2:g.32164588C>G	GRCh38
NC_000006.11:g.32132365C>G , CM000668.1:g.32132365C>G	GRCh37
NC_000006.10:g.32240343C>G	NCBI36
NG_042283.1:g.16137C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333845.10:c.-98C>G (EGFL8)	ENSP00000333380.6:n.-98C>G
ENST00000421600.2:c.234C>G (PPT2-EGFL8)
ENST00000422437.5:c.775C>G (PPT2-EGFL8)	ENSP00000457534.1:p.Pro259Ala
ENST00000428388.6:c.775C>G (PPT2-EGFL8)	ENSP00000455087.1:p.Pro259Ala
ENST00000453656.6:n.906C>G (PPT2-EGFL8)
ENST00000479001.2:n.760C>G (PPT2-EGFL8)
ENST00000583227.5:c.*327C>G (PPT2-EGFL8)	ENSP00000461909.1:n.*327C>G
ENST00000585246.5:c.*318-1550C>G (PPT2-EGFL8)	ENSP00000463570.1:n.*318-1550C>G
NR_037861.1:n.1189C>G (PPT2-EGFL8)