Canonical Allele Identifier: CA363175422

Gene: VARS2

Linked Data

• MyVariant Identifiers: chr6:g.30891172C>G (hg19) ; chr6:g.30923395C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30923395C>G , CM000668.2:g.30923395C>G	GRCh38
NC_000006.11:g.30891172C>G , CM000668.1:g.30891172C>G	GRCh37
NC_000006.10:g.30999151C>G	NCBI36
NG_034224.1:g.14188C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.2356C>G	ENSP00000441000.2:p.Leu786Val
ENST00000672801.1:c.2350C>G	ENSP00000500615.1:p.Leu784Val
ENST00000676266.1:c.2356C>G MANE Select	ENSP00000502585.1:p.Leu786Val
ENST00000321897.9:c.2356C>G	ENSP00000316092.5:p.Leu786Val
ENST00000469358.5:n.2344C>G
ENST00000473916.1:n.67C>G
ENST00000476162.5:n.1143C>G
ENST00000477052.1:n.442C>G
ENST00000477288.5:n.4969C>G
ENST00000541562.5:c.2446C>G	ENSP00000441000.1:p.Leu816Val
ENST00000542001.5:c.2350C>G	ENSP00000438200.2:p.Leu784Val
ENST00000625423.2:c.1936C>G	ENSP00000485818.1:p.Leu646Val
NM_001167733.2:c.1936C>G	NP_001161205.1:p.Leu646Val
NM_001167734.1:c.2446C>G	NP_001161206.1:p.Leu816Val
NM_020442.5:c.2356C>G	NP_065175.4:p.Leu786Val
NM_001167733.3:c.1936C>G	NP_001161205.1:p.Leu646Val
NM_001167734.2:c.2446C>G	NP_001161206.1:p.Leu816Val
NM_020442.6:c.2356C>G MANE Select	NP_065175.4:p.Leu786Val