Canonical Allele Identifier: CA136901327

Gene: PPT2-EGFL8

Linked Data

• dbSNP Id: rs570456468
• gnomAD v2: 6-32132055-C-G
• gnomAD v3: 6-32164278-C-G
• gnomAD v4: 6-32164278-C-G
• MyVariant Identifiers: chr6:g.32132055C>G (hg19) ; chr6:g.32164278C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32164278C>G , CM000668.2:g.32164278C>G	GRCh38
NC_000006.11:g.32132055C>G , CM000668.1:g.32132055C>G	GRCh37
NC_000006.10:g.32240033C>G	NCBI36
NG_042283.1:g.15827C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000421600.2:c.225-301C>G
ENST00000422437.5:c.766-301C>G	ENSP00000457534.1:n.766-301C>G
ENST00000428388.6:c.766-301C>G	ENSP00000455087.1:n.766-301C>G
ENST00000453656.6:n.897-301C>G
ENST00000479001.2:n.751-301C>G
ENST00000583227.5:c.*318-301C>G	ENSP00000461909.1:n.*318-301C>G
ENST00000585246.5:c.*317+1656C>G	ENSP00000463570.1:n.*317+1656C>G
NR_037861.1:n.1180-301C>G