Canonical Allele Identifier: CA1618929643
Community Standard Title: NM_020442.6(VARS2):c.3146G= (p.Arg1049=)
Gene: VARS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.30926164G= , CM000668.2:g.30926164G= GRCh38
NC_000006.11:g.30893941G= , CM000668.1:g.30893941G= GRCh37
NC_000006.10:g.31001920G= NCBI36
NG_034224.1:g.16957G=

Transcript Alleles

HGVS Amino-acid Change
NM_020442.6:c.3146G= MANE Select NP_065175.4:p.Arg1049=
ENST00000676266.1:c.3146G= MANE Select ENSP00000502585.1:p.Arg1049=
NM_001167733.2:c.2726G= NP_001161205.1:p.Arg909=
NM_001167733.3:c.2726G= NP_001161205.1:p.Arg909=
NM_001167734.1:c.3236G= NP_001161206.1:p.Arg1079=
NM_001167734.2:c.3236G= NP_001161206.1:p.Arg1079=
NM_020442.5:c.3146G= NP_065175.4:p.Arg1049=
ENST00000321897.9:c.3146G= ENSP00000316092.5:p.Arg1049=
ENST00000469358.5:n.3134G=
ENST00000473916.1:n.1705G=
ENST00000476162.5:n.1933G=
ENST00000477288.5:n.5759G=
ENST00000541562.5:c.3236G= ENSP00000441000.1:p.Arg1079=
ENST00000541562.6:c.3146G= ENSP00000441000.2:p.Arg1049=
ENST00000542001.5:c.3140G= ENSP00000438200.2:p.Arg1047=
ENST00000625423.2:c.2726G= ENSP00000485818.1:p.Arg909=
ENST00000672801.1:c.3140G= ENSP00000500615.1:p.Arg1047=