Canonical Allele Identifier: CA3706268

Gene: VARS2

Linked Data

• dbSNP Id: rs748960911
• ExAC: 6:30891267 C / T
• gnomAD v2: 6-30891267-C-T
• gnomAD v4: 6-30923490-C-T
• COSMIC: COSM4006306
• MyVariant Identifiers: chr6:g.30891267C>T (hg19) ; chr6:g.30923490C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30923490C>T , CM000668.2:g.30923490C>T	GRCh38
NC_000006.11:g.30891267C>T , CM000668.1:g.30891267C>T	GRCh37
NC_000006.10:g.30999246C>T	NCBI36
NG_034224.1:g.14283C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.2451C>T	ENSP00000441000.2:p.Leu817=
ENST00000672801.1:c.2445C>T	ENSP00000500615.1:p.Leu815=
ENST00000676266.1:c.2451C>T MANE Select	ENSP00000502585.1:p.Leu817=
ENST00000321897.9:c.2451C>T	ENSP00000316092.5:p.Leu817=
ENST00000469358.5:n.2439C>T
ENST00000473916.1:n.162C>T
ENST00000476162.5:n.1238C>T
ENST00000477052.1:n.537C>T
ENST00000477288.5:n.5064C>T
ENST00000541562.5:c.2541C>T	ENSP00000441000.1:p.Leu847=
ENST00000542001.5:c.2445C>T	ENSP00000438200.2:p.Leu815=
ENST00000625423.2:c.2031C>T	ENSP00000485818.1:p.Leu677=
NM_001167733.2:c.2031C>T	NP_001161205.1:p.Leu677=
NM_001167734.1:c.2541C>T	NP_001161206.1:p.Leu847=
NM_020442.5:c.2451C>T	NP_065175.4:p.Leu817=
NM_001167733.3:c.2031C>T	NP_001161205.1:p.Leu677=
NM_001167734.2:c.2541C>T	NP_001161206.1:p.Leu847=
NM_020442.6:c.2451C>T MANE Select	NP_065175.4:p.Leu817=