Canonical Allele Identifier: CA3705602
Community Standard Title: NM_020442.6(VARS2):c.502C>T (p.Arg168Cys)
Gene: VARS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.30915863C>T , CM000668.2:g.30915863C>T GRCh38
NC_000006.11:g.30883640C>T , CM000668.1:g.30883640C>T GRCh37
NC_000006.10:g.30991619C>T NCBI36
NG_034224.1:g.6656C>T

Transcript Alleles

HGVS Amino-acid Change
NM_020442.6:c.502C>T MANE Select NP_065175.4:p.Arg168Cys
ENST00000676266.1:c.502C>T MANE Select ENSP00000502585.1:p.Arg168Cys
NM_001167733.2:c.82C>T NP_001161205.1:p.Arg28Cys
NM_001167733.3:c.82C>T NP_001161205.1:p.Arg28Cys
NM_001167734.1:c.592C>T NP_001161206.1:p.Arg198Cys
NM_001167734.2:c.592C>T NP_001161206.1:p.Arg198Cys
NM_020442.5:c.502C>T NP_065175.4:p.Arg168Cys
ENST00000321897.9:c.502C>T ENSP00000316092.5:p.Arg168Cys
ENST00000428017.5:c.502C>T ENSP00000403749.1:p.Arg168Cys
ENST00000467717.5:n.380C>T
ENST00000477288.5:n.3090C>T
ENST00000541562.5:c.592C>T ENSP00000441000.1:p.Arg198Cys
ENST00000541562.6:c.502C>T ENSP00000441000.2:p.Arg168Cys
ENST00000542001.5:c.502C>T ENSP00000438200.2:p.Arg168Cys
ENST00000625423.2:c.82C>T ENSP00000485818.1:p.Arg28Cys
ENST00000672801.1:c.502C>T ENSP00000500615.1:p.Arg168Cys