Canonical Allele Identifier: CA136901342
Gene: PPT2-EGFL8 HGNC NCBI

Linked Data

dbSNP Id: rs867712318
MyVariant Identifiers: chr6:g.32132079T>C (hg19) chr6:g.32164302T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32164302T>C , CM000668.2:g.32164302T>C GRCh38
NC_000006.11:g.32132079T>C , CM000668.1:g.32132079T>C GRCh37
NC_000006.10:g.32240057T>C NCBI36
NG_042283.1:g.15851T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000421600.2:c.225-277T>C
ENST00000422437.5:c.766-277T>C ENSP00000457534.1:n.766-277T>C
ENST00000428388.6:c.766-277T>C ENSP00000455087.1:n.766-277T>C
ENST00000453656.6:n.897-277T>C
ENST00000479001.2:n.751-277T>C
ENST00000583227.5:c.*318-277T>C ENSP00000461909.1:n.*318-277T>C
ENST00000585246.5:c.*317+1680T>C ENSP00000463570.1:n.*317+1680T>C
NR_037861.1:n.1180-277T>C
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