Canonical Allele Identifier: CA363175007

Gene: VARS2

Linked Data

• gnomAD v4: 6-30922966-T-G
• MyVariant Identifiers: chr6:g.30890743T>G (hg19) ; chr6:g.30922966T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30922966T>G , CM000668.2:g.30922966T>G	GRCh38
NC_000006.11:g.30890743T>G , CM000668.1:g.30890743T>G	GRCh37
NC_000006.10:g.30998722T>G	NCBI36
NG_034224.1:g.13759T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.2175T>G	ENSP00000441000.2:p.His725Gln
ENST00000672801.1:c.2169T>G	ENSP00000500615.1:p.His723Gln
ENST00000676266.1:c.2175T>G MANE Select	ENSP00000502585.1:p.His725Gln
ENST00000321897.9:c.2175T>G	ENSP00000316092.5:p.His725Gln
ENST00000469358.5:n.2163T>G
ENST00000476162.5:n.962T>G
ENST00000477052.1:n.261T>G
ENST00000477288.5:n.4788T>G
ENST00000541562.5:c.2265T>G	ENSP00000441000.1:p.His755Gln
ENST00000542001.5:c.2169T>G	ENSP00000438200.2:p.His723Gln
ENST00000625423.2:c.1755T>G	ENSP00000485818.1:p.His585Gln
NM_001167733.2:c.1755T>G	NP_001161205.1:p.His585Gln
NM_001167734.1:c.2265T>G	NP_001161206.1:p.His755Gln
NM_020442.5:c.2175T>G	NP_065175.4:p.His725Gln
NM_001167733.3:c.1755T>G	NP_001161205.1:p.His585Gln
NM_001167734.2:c.2265T>G	NP_001161206.1:p.His755Gln
NM_020442.6:c.2175T>G MANE Select	NP_065175.4:p.His725Gln