Canonical Allele Identifier: CA3706147

Gene: VARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30922706G>T , CM000668.2:g.30922706G>T	GRCh38
NC_000006.11:g.30890483G>T , CM000668.1:g.30890483G>T	GRCh37
NC_000006.10:g.30998462G>T	NCBI36
NG_034224.1:g.13499G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020442.6:c.2038G>T MANE Select	NP_065175.4:p.Val680Leu
ENST00000676266.1:c.2038G>T MANE Select	ENSP00000502585.1:p.Val680Leu
NM_001167733.2:c.1618G>T	NP_001161205.1:p.Val540Leu
NM_001167733.3:c.1618G>T	NP_001161205.1:p.Val540Leu
NM_001167734.1:c.2128G>T	NP_001161206.1:p.Val710Leu
NM_001167734.2:c.2128G>T	NP_001161206.1:p.Val710Leu
NM_020442.5:c.2038G>T	NP_065175.4:p.Val680Leu
ENST00000321897.9:c.2038G>T	ENSP00000316092.5:p.Val680Leu
ENST00000469358.5:n.2026G>T
ENST00000476162.5:n.825G>T
ENST00000477052.1:n.124G>T
ENST00000477288.5:n.4651G>T
ENST00000541562.5:c.2128G>T	ENSP00000441000.1:p.Val710Leu
ENST00000541562.6:c.2038G>T	ENSP00000441000.2:p.Val680Leu
ENST00000542001.5:c.2032G>T	ENSP00000438200.2:p.Val678Leu
ENST00000625423.2:c.1618G>T	ENSP00000485818.1:p.Val540Leu
ENST00000672801.1:c.2032G>T	ENSP00000500615.1:p.Val678Leu