Canonical Allele Identifier: CA1618929442

Gene: VARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30925627_30925634dup , CM000668.2:g.30925627_30925634dup	GRCh38
NC_000006.11:g.30893404_30893411dup , CM000668.1:g.30893404_30893411dup	GRCh37
NC_000006.10:g.31001383_31001390dup	NCBI36
NG_034224.1:g.16420_16427dup

Transcript Alleles

HGVS	Amino-acid Change
NM_020442.6:c.2869_2876dup MANE Select	NP_065175.4:p.Leu961TrpfsTer?
ENST00000676266.1:c.2869_2876dup MANE Select	ENSP00000502585.1:p.Leu961TrpfsTer?
NM_001167733.2:c.2449_2456dup	NP_001161205.1:p.Leu821TrpfsTer?
NM_001167733.3:c.2449_2456dup	NP_001161205.1:p.Leu821TrpfsTer?
NM_001167734.1:c.2959_2966dup	NP_001161206.1:p.Leu991TrpfsTer?
NM_001167734.2:c.2959_2966dup	NP_001161206.1:p.Leu991TrpfsTer?
NM_020442.5:c.2869_2876dup	NP_065175.4:p.Leu961TrpfsTer?
ENST00000321897.9:c.2869_2876dup	ENSP00000316092.5:p.Leu961TrpfsTer?
ENST00000469358.5:n.2857_2864dup
ENST00000473916.1:n.1428_1435dup
ENST00000476162.5:n.1656_1663dup
ENST00000477288.5:n.5482_5489dup
ENST00000541562.5:c.2959_2966dup	ENSP00000441000.1:p.Leu991TrpfsTer?
ENST00000541562.6:c.2869_2876dup	ENSP00000441000.2:p.Leu961TrpfsTer?
ENST00000542001.5:c.2863_2870dup	ENSP00000438200.2:p.Leu959TrpfsTer?
ENST00000625423.2:c.2449_2456dup	ENSP00000485818.1:p.Leu821TrpfsTer?
ENST00000672801.1:c.2863_2870dup	ENSP00000500615.1:p.Leu959TrpfsTer?