Canonical Allele Identifier: CA363174930

Gene: VARS2

Linked Data

• MyVariant Identifiers: chr6:g.30890706G>T (hg19) ; chr6:g.30922929G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30922929G>T , CM000668.2:g.30922929G>T	GRCh38
NC_000006.11:g.30890706G>T , CM000668.1:g.30890706G>T	GRCh37
NC_000006.10:g.30998685G>T	NCBI36
NG_034224.1:g.13722G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.2138G>T	ENSP00000441000.2:p.Cys713Phe
ENST00000672801.1:c.2132G>T	ENSP00000500615.1:p.Cys711Phe
ENST00000676266.1:c.2138G>T MANE Select	ENSP00000502585.1:p.Cys713Phe
ENST00000321897.9:c.2138G>T	ENSP00000316092.5:p.Cys713Phe
ENST00000469358.5:n.2126G>T
ENST00000476162.5:n.925G>T
ENST00000477052.1:n.224G>T
ENST00000477288.5:n.4751G>T
ENST00000541562.5:c.2228G>T	ENSP00000441000.1:p.Cys743Phe
ENST00000542001.5:c.2132G>T	ENSP00000438200.2:p.Cys711Phe
ENST00000625423.2:c.1718G>T	ENSP00000485818.1:p.Cys573Phe
NM_001167733.2:c.1718G>T	NP_001161205.1:p.Cys573Phe
NM_001167734.1:c.2228G>T	NP_001161206.1:p.Cys743Phe
NM_020442.5:c.2138G>T	NP_065175.4:p.Cys713Phe
NM_001167733.3:c.1718G>T	NP_001161205.1:p.Cys573Phe
NM_001167734.2:c.2228G>T	NP_001161206.1:p.Cys743Phe
NM_020442.6:c.2138G>T MANE Select	NP_065175.4:p.Cys713Phe