Canonical Allele Identifier: CA449704150
Gene: PPT2-EGFL8 HGNC NCBI

Linked Data

gnomAD v4: 6-32164582-G-A
MyVariant Identifiers: chr6:g.32132359G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32164582G>A , CM000668.2:g.32164582G>A GRCh38
NC_000006.11:g.32132359G>A , CM000668.1:g.32132359G>A GRCh37
NC_000006.10:g.32240337G>A NCBI36
NG_042283.1:g.16131G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000421600.2:c.228G>A
ENST00000422437.5:c.769G>A ENSP00000457534.1:p.Ala257Thr
ENST00000428388.6:c.769G>A ENSP00000455087.1:p.Ala257Thr
ENST00000453656.6:n.900G>A
ENST00000479001.2:n.754G>A
ENST00000583227.5:c.*321G>A ENSP00000461909.1:n.*321G>A
ENST00000585246.5:c.*318-1556G>A ENSP00000463570.1:n.*318-1556G>A
NR_037861.1:n.1183G>A
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