Canonical Allele Identifier: CA449779250

Gene: VARS2

Linked Data

• dbSNP Id: rs1794620914
• MyVariant Identifiers: chr6:g.30890728C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30922951C>T , CM000668.2:g.30922951C>T	GRCh38
NC_000006.11:g.30890728C>T , CM000668.1:g.30890728C>T	GRCh37
NC_000006.10:g.30998707C>T	NCBI36
NG_034224.1:g.13744C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.2160C>T	ENSP00000441000.2:p.Phe720=
ENST00000672801.1:c.2154C>T	ENSP00000500615.1:p.Phe718=
ENST00000676266.1:c.2160C>T MANE Select	ENSP00000502585.1:p.Phe720=
ENST00000321897.9:c.2160C>T	ENSP00000316092.5:p.Phe720=
ENST00000469358.5:n.2148C>T
ENST00000476162.5:n.947C>T
ENST00000477052.1:n.246C>T
ENST00000477288.5:n.4773C>T
ENST00000541562.5:c.2250C>T	ENSP00000441000.1:p.Phe750=
ENST00000542001.5:c.2154C>T	ENSP00000438200.2:p.Phe718=
ENST00000625423.2:c.1740C>T	ENSP00000485818.1:p.Phe580=
NM_001167733.2:c.1740C>T	NP_001161205.1:p.Phe580=
NM_001167734.1:c.2250C>T	NP_001161206.1:p.Phe750=
NM_020442.5:c.2160C>T	NP_065175.4:p.Phe720=
NM_001167733.3:c.1740C>T	NP_001161205.1:p.Phe580=
NM_001167734.2:c.2250C>T	NP_001161206.1:p.Phe750=
NM_020442.6:c.2160C>T MANE Select	NP_065175.4:p.Phe720=