Canonical Allele Identifier: CA2677908624

Gene: VARS2

Linked Data

• gnomAD v4: 6-30922785-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30922785G>C , CM000668.2:g.30922785G>C	GRCh38
NC_000006.11:g.30890562G>C , CM000668.1:g.30890562G>C	GRCh37
NC_000006.10:g.30998541G>C	NCBI36
NG_034224.1:g.13578G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.2106+11G>C	ENSP00000441000.2:n.2106+11G>C
ENST00000672801.1:c.2100+11G>C	ENSP00000500615.1:n.2100+11G>C
ENST00000676266.1:c.2106+11G>C MANE Select	ENSP00000502585.1:n.2106+11G>C
ENST00000321897.9:c.2106+11G>C	ENSP00000316092.5:n.2106+11G>C
ENST00000469358.5:n.2094+11G>C
ENST00000476162.5:n.893+11G>C
ENST00000477052.1:n.192+11G>C
ENST00000477288.5:n.4719+11G>C
ENST00000541562.5:c.2196+11G>C	ENSP00000441000.1:n.2196+11G>C
ENST00000542001.5:c.2100+11G>C	ENSP00000438200.2:n.2100+11G>C
ENST00000625423.2:c.1686+11G>C	ENSP00000485818.1:n.1686+11G>C
NM_001167733.2:c.1686+11G>C	NP_001161205.1:n.1686+11G>C
NM_001167734.1:c.2196+11G>C	NP_001161206.1:n.2196+11G>C
NM_020442.5:c.2106+11G>C	NP_065175.4:n.2106+11G>C
NM_001167733.3:c.1686+11G>C	NP_001161205.1:n.1686+11G>C
NM_001167734.2:c.2196+11G>C	NP_001161206.1:n.2196+11G>C
NM_020442.6:c.2106+11G>C MANE Select	NP_065175.4:n.2106+11G>C