Canonical Allele Identifier: CA363174951

Gene: VARS2

Linked Data

• gnomAD v4: 6-30922939-T-G
• MyVariant Identifiers: chr6:g.30890716T>G (hg19) ; chr6:g.30922939T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30922939T>G , CM000668.2:g.30922939T>G	GRCh38
NC_000006.11:g.30890716T>G , CM000668.1:g.30890716T>G	GRCh37
NC_000006.10:g.30998695T>G	NCBI36
NG_034224.1:g.13732T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.2148T>G	ENSP00000441000.2:p.Asp716Glu
ENST00000672801.1:c.2142T>G	ENSP00000500615.1:p.Asp714Glu
ENST00000676266.1:c.2148T>G MANE Select	ENSP00000502585.1:p.Asp716Glu
ENST00000321897.9:c.2148T>G	ENSP00000316092.5:p.Asp716Glu
ENST00000469358.5:n.2136T>G
ENST00000476162.5:n.935T>G
ENST00000477052.1:n.234T>G
ENST00000477288.5:n.4761T>G
ENST00000541562.5:c.2238T>G	ENSP00000441000.1:p.Asp746Glu
ENST00000542001.5:c.2142T>G	ENSP00000438200.2:p.Asp714Glu
ENST00000625423.2:c.1728T>G	ENSP00000485818.1:p.Asp576Glu
NM_001167733.2:c.1728T>G	NP_001161205.1:p.Asp576Glu
NM_001167734.1:c.2238T>G	NP_001161206.1:p.Asp746Glu
NM_020442.5:c.2148T>G	NP_065175.4:p.Asp716Glu
NM_001167733.3:c.1728T>G	NP_001161205.1:p.Asp576Glu
NM_001167734.2:c.2238T>G	NP_001161206.1:p.Asp746Glu
NM_020442.6:c.2148T>G MANE Select	NP_065175.4:p.Asp716Glu