Canonical Allele Identifier: CA1618925045
Community Standard Title: NM_020442.6(VARS2):c.-18_-12del
Gene: VARS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.30914819_30914825del , CM000668.2:g.30914819_30914825del GRCh38
NC_000006.11:g.30882596_30882602del , CM000668.1:g.30882596_30882602del GRCh37
NC_000006.10:g.30990575_30990581del NCBI36
NG_034224.1:g.5612_5618del

Transcript Alleles

HGVS Amino-acid Change
NM_020442.6:c.-18_-12del MANE Select NP_065175.4:n.-18_-12del
ENST00000676266.1:c.-18_-12del MANE Select ENSP00000502585.1:n.-18_-12del
NM_001167733.2:c.-219-337_-219-331del NP_001161205.1:n.-219-337_-219-331del
NM_001167733.3:c.-219-337_-219-331del NP_001161205.1:n.-219-337_-219-331del
NM_001167734.1:c.73_79del NP_001161206.1:p.Pro25LysfsTer4
NM_001167734.2:c.73_79del NP_001161206.1:p.Pro25LysfsTer4
NM_020442.5:c.-18_-12del NP_065175.4:n.-18_-12del
ENST00000321897.9:c.-18_-12del ENSP00000316092.5:n.-18_-12del
ENST00000421263.1:c.-18_-12del ENSP00000416390.1:n.-18_-12del
ENST00000428017.5:c.-18_-12del ENSP00000403749.1:n.-18_-12del
ENST00000467717.5:n.80-337_80-331del
ENST00000477288.5:n.2571_2577del
ENST00000541562.5:c.73_79del ENSP00000441000.1:p.Pro25LysfsTer4
ENST00000541562.6:c.-18_-12del ENSP00000441000.2:n.-18_-12del
ENST00000542001.5:c.-18_-12del ENSP00000438200.2:n.-18_-12del
ENST00000625423.2:c.-219-337_-219-331del ENSP00000485818.1:n.-219-337_-219-331del
ENST00000672801.1:c.-18_-12del ENSP00000500615.1:n.-18_-12del