Canonical Allele Identifier: CA2678107803
Gene: PPT2-EGFL8 HGNC NCBI

Linked Data

gnomAD v4: 6-32164475-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32164475G>A , CM000668.2:g.32164475G>A GRCh38
NC_000006.11:g.32132252G>A , CM000668.1:g.32132252G>A GRCh37
NC_000006.10:g.32240230G>A NCBI36
NG_042283.1:g.16024G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000421600.2:c.225-104G>A
ENST00000422437.5:c.766-104G>A ENSP00000457534.1:n.766-104G>A
ENST00000428388.6:c.766-104G>A ENSP00000455087.1:n.766-104G>A
ENST00000453656.6:n.897-104G>A
ENST00000479001.2:n.751-104G>A
ENST00000583227.5:c.*318-104G>A ENSP00000461909.1:n.*318-104G>A
ENST00000585246.5:c.*318-1663G>A ENSP00000463570.1:n.*318-1663G>A
NR_037861.1:n.1180-104G>A