Canonical Allele Identifier: CA566371561
Gene: PPT2-EGFL8 HGNC NCBI

Linked Data

dbSNP Id: rs1392204403
gnomAD v2: 6-32132138-G-A
gnomAD v3: 6-32164361-G-A
gnomAD v4: 6-32164361-G-A
MyVariant Identifiers: chr6:g.32132138G>A (hg19) chr6:g.32164361G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32164361G>A , CM000668.2:g.32164361G>A GRCh38
NC_000006.11:g.32132138G>A , CM000668.1:g.32132138G>A GRCh37
NC_000006.10:g.32240116G>A NCBI36
NG_042283.1:g.15910G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000421600.2:c.225-218G>A
ENST00000422437.5:c.766-218G>A ENSP00000457534.1:n.766-218G>A
ENST00000428388.6:c.766-218G>A ENSP00000455087.1:n.766-218G>A
ENST00000453656.6:n.897-218G>A
ENST00000479001.2:n.751-218G>A
ENST00000583227.5:c.*318-218G>A ENSP00000461909.1:n.*318-218G>A
ENST00000585246.5:c.*317+1739G>A ENSP00000463570.1:n.*317+1739G>A
NR_037861.1:n.1180-218G>A
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