Canonical Allele Identifier: CA363173169

Gene: VARS2

Linked Data

• ClinVar Variation Id: 488637
• ClinVar RCV Id: RCV000578459
• dbSNP Id: rs775439829
• MyVariant Identifiers: chr6:g.30888447G>C (hg19) ; chr6:g.30920670G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30920670G>C , CM000668.2:g.30920670G>C	GRCh38
NC_000006.11:g.30888447G>C , CM000668.1:g.30888447G>C	GRCh37
NC_000006.10:g.30996426G>C	NCBI36
NG_034224.1:g.11463G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.1400G>C	ENSP00000441000.2:p.Arg467Pro
ENST00000672801.1:c.1394G>C	ENSP00000500615.1:p.Arg465Pro
ENST00000676266.1:c.1400G>C MANE Select	ENSP00000502585.1:p.Arg467Pro
ENST00000321897.9:c.1400G>C	ENSP00000316092.5:p.Arg467Pro
ENST00000469358.5:n.1320G>C
ENST00000476162.5:n.258G>C
ENST00000477288.5:n.4013G>C
ENST00000541562.5:c.1490G>C	ENSP00000441000.1:p.Arg497Pro
ENST00000542001.5:c.1394G>C	ENSP00000438200.2:p.Arg465Pro
ENST00000625423.2:c.980G>C	ENSP00000485818.1:p.Arg327Pro
NM_001167733.2:c.980G>C	NP_001161205.1:p.Arg327Pro
NM_001167734.1:c.1490G>C	NP_001161206.1:p.Arg497Pro
NM_020442.5:c.1400G>C	NP_065175.4:p.Arg467Pro
NM_001167733.3:c.980G>C	NP_001161205.1:p.Arg327Pro
NM_001167734.2:c.1490G>C	NP_001161206.1:p.Arg497Pro
NM_020442.6:c.1400G>C MANE Select	NP_065175.4:p.Arg467Pro