Canonical Allele Identifier: CA449704145

Gene: PPT2-EGFL8

Linked Data

• gnomAD v4: 6-32164580-C-T
• MyVariant Identifiers: chr6:g.32132357C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32164580C>T , CM000668.2:g.32164580C>T	GRCh38
NC_000006.11:g.32132357C>T , CM000668.1:g.32132357C>T	GRCh37
NC_000006.10:g.32240335C>T	NCBI36
NG_042283.1:g.16129C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000421600.2:c.226C>T
ENST00000422437.5:c.767C>T	ENSP00000457534.1:p.Pro256Leu
ENST00000428388.6:c.767C>T	ENSP00000455087.1:p.Pro256Leu
ENST00000453656.6:n.898C>T
ENST00000479001.2:n.752C>T
ENST00000583227.5:c.*319C>T	ENSP00000461909.1:n.*319C>T
ENST00000585246.5:c.*318-1558C>T	ENSP00000463570.1:n.*318-1558C>T
NR_037861.1:n.1181C>T