Canonical Allele Identifier: CA136901362
Gene: PPT2-EGFL8 HGNC NCBI

Linked Data

dbSNP Id: rs974774165
MyVariant Identifiers: chr6:g.32132089C>T (hg19) chr6:g.32164312C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32164312C>T , CM000668.2:g.32164312C>T GRCh38
NC_000006.11:g.32132089C>T , CM000668.1:g.32132089C>T GRCh37
NC_000006.10:g.32240067C>T NCBI36
NG_042283.1:g.15861C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000421600.2:c.225-267C>T
ENST00000422437.5:c.766-267C>T ENSP00000457534.1:n.766-267C>T
ENST00000428388.6:c.766-267C>T ENSP00000455087.1:n.766-267C>T
ENST00000453656.6:n.897-267C>T
ENST00000479001.2:n.751-267C>T
ENST00000583227.5:c.*318-267C>T ENSP00000461909.1:n.*318-267C>T
ENST00000585246.5:c.*317+1690C>T ENSP00000463570.1:n.*317+1690C>T
NR_037861.1:n.1180-267C>T
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