Canonical Allele Identifier: CA16604923

Gene: VARS2

Linked Data

• ClinVar Variation Id: 383278
• ClinVar RCV Id: RCV000429638
• dbSNP Id: rs1057521574
• gnomAD v3: 6-30914358-G-C
• gnomAD v4: 6-30914358-G-C
• MyVariant Identifiers: chr6:g.30882135G>C (hg19) ; chr6:g.30914358G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30914358G>C , CM000668.2:g.30914358G>C	GRCh38
NC_000006.11:g.30882135G>C , CM000668.1:g.30882135G>C	GRCh37
NC_000006.10:g.30990114G>C	NCBI36
NG_034224.1:g.5151G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.-144G>C	ENSP00000441000.2:n.-144G>C
ENST00000672801.1:c.-479G>C	ENSP00000500615.1:n.-479G>C
ENST00000676266.1:c.-28+14G>C MANE Select	ENSP00000502585.1:n.-28+14G>C
ENST00000321897.9:c.-479G>C	ENSP00000316092.5:n.-479G>C
ENST00000428017.5:c.-33+14G>C	ENSP00000403749.1:n.-33+14G>C
ENST00000467717.5:n.79+14G>C
ENST00000477288.5:n.2110G>C
ENST00000541562.5:c.-54G>C	ENSP00000441000.1:n.-54G>C
ENST00000542001.5:c.-479G>C	ENSP00000438200.2:n.-479G>C
ENST00000625423.2:c.-220+14G>C	ENSP00000485818.1:n.-220+14G>C
NM_001167733.2:c.-220+14G>C	NP_001161205.1:n.-220+14G>C
NM_001167734.1:c.-54G>C	NP_001161206.1:n.-54G>C
NM_020442.5:c.-28+14G>C	NP_065175.4:n.-28+14G>C
NM_001167733.3:c.-220+14G>C	NP_001161205.1:n.-220+14G>C
NM_001167734.2:c.-54G>C	NP_001161206.1:n.-54G>C
NM_020442.6:c.-28+14G>C MANE Select	NP_065175.4:n.-28+14G>C