Canonical Allele Identifier: CA136901321
Gene: PPT2-EGFL8 HGNC NCBI

Linked Data

dbSNP Id: rs117633869
gnomAD v2: 6-32132021-T-C
gnomAD v3: 6-32164244-T-C
gnomAD v4: 6-32164244-T-C
MyVariant Identifiers: chr6:g.32132021T>C (hg19) chr6:g.32164244T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32164244T>C , CM000668.2:g.32164244T>C GRCh38
NC_000006.11:g.32132021T>C , CM000668.1:g.32132021T>C GRCh37
NC_000006.10:g.32239999T>C NCBI36
NG_042283.1:g.15793T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000421600.2:c.225-335T>C
ENST00000422437.5:c.766-335T>C ENSP00000457534.1:n.766-335T>C
ENST00000428388.6:c.766-335T>C ENSP00000455087.1:n.766-335T>C
ENST00000453656.6:n.897-335T>C
ENST00000479001.2:n.751-335T>C
ENST00000583227.5:c.*318-335T>C ENSP00000461909.1:n.*318-335T>C
ENST00000585246.5:c.*317+1622T>C ENSP00000463570.1:n.*317+1622T>C
NR_037861.1:n.1180-335T>C
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