Canonical Allele Identifier: CA363178990

Gene: VARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30926164G>T , CM000668.2:g.30926164G>T	GRCh38
NC_000006.11:g.30893941G>T , CM000668.1:g.30893941G>T	GRCh37
NC_000006.10:g.31001920G>T	NCBI36
NG_034224.1:g.16957G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020442.6:c.3146G>T MANE Select	NP_065175.4:p.Arg1049Leu
ENST00000676266.1:c.3146G>T MANE Select	ENSP00000502585.1:p.Arg1049Leu
NM_001167733.2:c.2726G>T	NP_001161205.1:p.Arg909Leu
NM_001167733.3:c.2726G>T	NP_001161205.1:p.Arg909Leu
NM_001167734.1:c.3236G>T	NP_001161206.1:p.Arg1079Leu
NM_001167734.2:c.3236G>T	NP_001161206.1:p.Arg1079Leu
NM_020442.5:c.3146G>T	NP_065175.4:p.Arg1049Leu
ENST00000321897.9:c.3146G>T	ENSP00000316092.5:p.Arg1049Leu
ENST00000469358.5:n.3134G>T
ENST00000473916.1:n.1705G>T
ENST00000476162.5:n.1933G>T
ENST00000477288.5:n.5759G>T
ENST00000541562.5:c.3236G>T	ENSP00000441000.1:p.Arg1079Leu
ENST00000541562.6:c.3146G>T	ENSP00000441000.2:p.Arg1049Leu
ENST00000542001.5:c.3140G>T	ENSP00000438200.2:p.Arg1047Leu
ENST00000625423.2:c.2726G>T	ENSP00000485818.1:p.Arg909Leu
ENST00000672801.1:c.3140G>T	ENSP00000500615.1:p.Arg1047Leu