Canonical Allele Identifier: CA823942174
Gene: PPT2-EGFL8 HGNC NCBI

Linked Data

dbSNP Id: rs368083615
MyVariant Identifiers: chr6:g.32132148A>C (hg19) chr6:g.32164371A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32164371A>C , CM000668.2:g.32164371A>C GRCh38
NC_000006.11:g.32132148A>C , CM000668.1:g.32132148A>C GRCh37
NC_000006.10:g.32240126A>C NCBI36
NG_042283.1:g.15920A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000421600.2:c.225-208A>C
ENST00000422437.5:c.766-208A>C ENSP00000457534.1:n.766-208A>C
ENST00000428388.6:c.766-208A>C ENSP00000455087.1:n.766-208A>C
ENST00000453656.6:n.897-208A>C
ENST00000479001.2:n.751-208A>C
ENST00000583227.5:c.*318-208A>C ENSP00000461909.1:n.*318-208A>C
ENST00000585246.5:c.*317+1749A>C ENSP00000463570.1:n.*317+1749A>C
NR_037861.1:n.1180-208A>C
Search 100 bp 5'
Search 100 bp 3'