Canonical Allele Identifier: CA363175868

Gene: VARS2

Linked Data

• gnomAD v4: 6-30923494-G-T
• MyVariant Identifiers: chr6:g.30891271G>T (hg19) ; chr6:g.30923494G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30923494G>T , CM000668.2:g.30923494G>T	GRCh38
NC_000006.11:g.30891271G>T , CM000668.1:g.30891271G>T	GRCh37
NC_000006.10:g.30999250G>T	NCBI36
NG_034224.1:g.14287G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.2455G>T	ENSP00000441000.2:p.Asp819Tyr
ENST00000672801.1:c.2449G>T	ENSP00000500615.1:p.Asp817Tyr
ENST00000676266.1:c.2455G>T MANE Select	ENSP00000502585.1:p.Asp819Tyr
ENST00000321897.9:c.2455G>T	ENSP00000316092.5:p.Asp819Tyr
ENST00000469358.5:n.2443G>T
ENST00000473916.1:n.166G>T
ENST00000476162.5:n.1242G>T
ENST00000477052.1:n.541G>T
ENST00000477288.5:n.5068G>T
ENST00000541562.5:c.2545G>T	ENSP00000441000.1:p.Asp849Tyr
ENST00000542001.5:c.2449G>T	ENSP00000438200.2:p.Asp817Tyr
ENST00000625423.2:c.2035G>T	ENSP00000485818.1:p.Asp679Tyr
NM_001167733.2:c.2035G>T	NP_001161205.1:p.Asp679Tyr
NM_001167734.1:c.2545G>T	NP_001161206.1:p.Asp849Tyr
NM_020442.5:c.2455G>T	NP_065175.4:p.Asp819Tyr
NM_001167733.3:c.2035G>T	NP_001161205.1:p.Asp679Tyr
NM_001167734.2:c.2545G>T	NP_001161206.1:p.Asp849Tyr
NM_020442.6:c.2455G>T MANE Select	NP_065175.4:p.Asp819Tyr