Canonical Allele Identifier: CA136901314
Gene: PPT2-EGFL8 HGNC NCBI

Linked Data

dbSNP Id: rs966096690
gnomAD v2: 6-32132005-G-A
gnomAD v3: 6-32164228-G-A
gnomAD v4: 6-32164228-G-A
MyVariant Identifiers: chr6:g.32132005G>A (hg19) chr6:g.32164228G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32164228G>A , CM000668.2:g.32164228G>A GRCh38
NC_000006.11:g.32132005G>A , CM000668.1:g.32132005G>A GRCh37
NC_000006.10:g.32239983G>A NCBI36
NG_042283.1:g.15777G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000421600.2:c.225-351G>A
ENST00000422437.5:c.766-351G>A ENSP00000457534.1:n.766-351G>A
ENST00000428388.6:c.766-351G>A ENSP00000455087.1:n.766-351G>A
ENST00000453656.6:n.897-351G>A
ENST00000479001.2:n.751-351G>A
ENST00000583227.5:c.*318-351G>A ENSP00000461909.1:n.*318-351G>A
ENST00000585246.5:c.*317+1606G>A ENSP00000463570.1:n.*317+1606G>A
NR_037861.1:n.1180-351G>A
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