Canonical Allele Identifier: CA136901308
Gene: PPT2-EGFL8 HGNC NCBI

Linked Data

dbSNP Id: rs1018926049
gnomAD v2: 6-32132004-C-T
gnomAD v3: 6-32164227-C-T
gnomAD v4: 6-32164227-C-T
MyVariant Identifiers: chr6:g.32132004C>T (hg19) chr6:g.32164227C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32164227C>T , CM000668.2:g.32164227C>T GRCh38
NC_000006.11:g.32132004C>T , CM000668.1:g.32132004C>T GRCh37
NC_000006.10:g.32239982C>T NCBI36
NG_042283.1:g.15776C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000421600.2:c.225-352C>T
ENST00000422437.5:c.766-352C>T ENSP00000457534.1:n.766-352C>T
ENST00000428388.6:c.766-352C>T ENSP00000455087.1:n.766-352C>T
ENST00000453656.6:n.897-352C>T
ENST00000479001.2:n.751-352C>T
ENST00000583227.5:c.*318-352C>T ENSP00000461909.1:n.*318-352C>T
ENST00000585246.5:c.*317+1605C>T ENSP00000463570.1:n.*317+1605C>T
NR_037861.1:n.1180-352C>T
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