Canonical Allele Identifier: CA2678107817
Gene: PPT2-EGFL8 HGNC NCBI

Linked Data

gnomAD v4: 6-32164482-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32164482C>T , CM000668.2:g.32164482C>T GRCh38
NC_000006.11:g.32132259C>T , CM000668.1:g.32132259C>T GRCh37
NC_000006.10:g.32240237C>T NCBI36
NG_042283.1:g.16031C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000421600.2:c.225-97C>T
ENST00000422437.5:c.766-97C>T ENSP00000457534.1:n.766-97C>T
ENST00000428388.6:c.766-97C>T ENSP00000455087.1:n.766-97C>T
ENST00000453656.6:n.897-97C>T
ENST00000479001.2:n.751-97C>T
ENST00000583227.5:c.*318-97C>T ENSP00000461909.1:n.*318-97C>T
ENST00000585246.5:c.*318-1656C>T ENSP00000463570.1:n.*318-1656C>T
NR_037861.1:n.1180-97C>T