Canonical Allele Identifier: CA3706262

Gene: VARS2

Linked Data

• dbSNP Id: rs751330210
• ExAC: 6:30891232 A / T
• gnomAD v2: 6-30891232-A-T
• gnomAD v3: 6-30923455-A-T
• gnomAD v4: 6-30923455-A-T
• MyVariant Identifiers: chr6:g.30891232A>T (hg19) ; chr6:g.30923455A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30923455A>T , CM000668.2:g.30923455A>T	GRCh38
NC_000006.11:g.30891232A>T , CM000668.1:g.30891232A>T	GRCh37
NC_000006.10:g.30999211A>T	NCBI36
NG_034224.1:g.14248A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.2416A>T	ENSP00000441000.2:p.Thr806Ser
ENST00000672801.1:c.2410A>T	ENSP00000500615.1:p.Thr804Ser
ENST00000676266.1:c.2416A>T MANE Select	ENSP00000502585.1:p.Thr806Ser
ENST00000321897.9:c.2416A>T	ENSP00000316092.5:p.Thr806Ser
ENST00000469358.5:n.2404A>T
ENST00000473916.1:n.127A>T
ENST00000476162.5:n.1203A>T
ENST00000477052.1:n.502A>T
ENST00000477288.5:n.5029A>T
ENST00000541562.5:c.2506A>T	ENSP00000441000.1:p.Thr836Ser
ENST00000542001.5:c.2410A>T	ENSP00000438200.2:p.Thr804Ser
ENST00000625423.2:c.1996A>T	ENSP00000485818.1:p.Thr666Ser
NM_001167733.2:c.1996A>T	NP_001161205.1:p.Thr666Ser
NM_001167734.1:c.2506A>T	NP_001161206.1:p.Thr836Ser
NM_020442.5:c.2416A>T	NP_065175.4:p.Thr806Ser
NM_001167733.3:c.1996A>T	NP_001161205.1:p.Thr666Ser
NM_001167734.2:c.2506A>T	NP_001161206.1:p.Thr836Ser
NM_020442.6:c.2416A>T MANE Select	NP_065175.4:p.Thr806Ser