Canonical Allele Identifier: CA566371558
Gene: PPT2-EGFL8 HGNC NCBI

Linked Data

dbSNP Id: rs1429086001
gnomAD v2: 6-32132052-A-C
gnomAD v3: 6-32164275-A-C
gnomAD v4: 6-32164275-A-C
MyVariant Identifiers: chr6:g.32132052A>C (hg19) chr6:g.32164275A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32164275A>C , CM000668.2:g.32164275A>C GRCh38
NC_000006.11:g.32132052A>C , CM000668.1:g.32132052A>C GRCh37
NC_000006.10:g.32240030A>C NCBI36
NG_042283.1:g.15824A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000421600.2:c.225-304A>C
ENST00000422437.5:c.766-304A>C ENSP00000457534.1:n.766-304A>C
ENST00000428388.6:c.766-304A>C ENSP00000455087.1:n.766-304A>C
ENST00000453656.6:n.897-304A>C
ENST00000479001.2:n.751-304A>C
ENST00000583227.5:c.*318-304A>C ENSP00000461909.1:n.*318-304A>C
ENST00000585246.5:c.*317+1653A>C ENSP00000463570.1:n.*317+1653A>C
NR_037861.1:n.1180-304A>C
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