Canonical Allele Identifier: CA3706369

Gene: VARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30925350G>A , CM000668.2:g.30925350G>A	GRCh38
NC_000006.11:g.30893127G>A , CM000668.1:g.30893127G>A	GRCh37
NC_000006.10:g.31001106G>A	NCBI36
NG_034224.1:g.16143G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020442.6:c.2750G>A MANE Select	NP_065175.4:p.Arg917Gln
ENST00000676266.1:c.2750G>A MANE Select	ENSP00000502585.1:p.Arg917Gln
NM_001167733.2:c.2330G>A	NP_001161205.1:p.Arg777Gln
NM_001167733.3:c.2330G>A	NP_001161205.1:p.Arg777Gln
NM_001167734.1:c.2840G>A	NP_001161206.1:p.Arg947Gln
NM_001167734.2:c.2840G>A	NP_001161206.1:p.Arg947Gln
NM_020442.5:c.2750G>A	NP_065175.4:p.Arg917Gln
ENST00000321897.9:c.2750G>A	ENSP00000316092.5:p.Arg917Gln
ENST00000469358.5:n.2738G>A
ENST00000473916.1:n.1309G>A
ENST00000476162.5:n.1537G>A
ENST00000477288.5:n.5363G>A
ENST00000541562.5:c.2840G>A	ENSP00000441000.1:p.Arg947Gln
ENST00000541562.6:c.2750G>A	ENSP00000441000.2:p.Arg917Gln
ENST00000542001.5:c.2744G>A	ENSP00000438200.2:p.Arg915Gln
ENST00000625423.2:c.2330G>A	ENSP00000485818.1:p.Arg777Gln
ENST00000672801.1:c.2744G>A	ENSP00000500615.1:p.Arg915Gln