Canonical Allele Identifier: CA1087517237
Gene: PPT2-EGFL8 HGNC NCBI

Linked Data

dbSNP Id: rs1784341889
gnomAD v3: 6-32164216-C-T
gnomAD v4: 6-32164216-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32164216C>T , CM000668.2:g.32164216C>T GRCh38
NC_000006.11:g.32131993C>T , CM000668.1:g.32131993C>T GRCh37
NC_000006.10:g.32239971C>T NCBI36
NG_042283.1:g.15765C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000421600.2:c.225-363C>T
ENST00000422437.5:c.766-363C>T ENSP00000457534.1:n.766-363C>T
ENST00000428388.6:c.766-363C>T ENSP00000455087.1:n.766-363C>T
ENST00000453656.6:n.897-363C>T
ENST00000479001.2:n.751-363C>T
ENST00000583227.5:c.*318-363C>T ENSP00000461909.1:n.*318-363C>T
ENST00000585246.5:c.*317+1594C>T ENSP00000463570.1:n.*317+1594C>T
NR_037861.1:n.1180-363C>T
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