Canonical Allele Identifier: CA363175689
Gene: VARS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.30923459A>T , CM000668.2:g.30923459A>T GRCh38
NC_000006.11:g.30891236A>T , CM000668.1:g.30891236A>T GRCh37
NC_000006.10:g.30999215A>T NCBI36
NG_034224.1:g.14252A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000541562.6:c.2420A>T ENSP00000441000.2:p.His807Leu
ENST00000672801.1:c.2414A>T ENSP00000500615.1:p.His805Leu
ENST00000676266.1:c.2420A>T MANE Select ENSP00000502585.1:p.His807Leu
ENST00000321897.9:c.2420A>T ENSP00000316092.5:p.His807Leu
ENST00000469358.5:n.2408A>T
ENST00000473916.1:n.131A>T
ENST00000476162.5:n.1207A>T
ENST00000477052.1:n.506A>T
ENST00000477288.5:n.5033A>T
ENST00000541562.5:c.2510A>T ENSP00000441000.1:p.His837Leu
ENST00000542001.5:c.2414A>T ENSP00000438200.2:p.His805Leu
ENST00000625423.2:c.2000A>T ENSP00000485818.1:p.His667Leu
NM_001167733.2:c.2000A>T NP_001161205.1:p.His667Leu
NM_001167734.1:c.2510A>T NP_001161206.1:p.His837Leu
NM_020442.5:c.2420A>T NP_065175.4:p.His807Leu
NM_001167733.3:c.2000A>T NP_001161205.1:p.His667Leu
NM_001167734.2:c.2510A>T NP_001161206.1:p.His837Leu
NM_020442.6:c.2420A>T MANE Select NP_065175.4:p.His807Leu