Canonical Allele Identifier: CA389647762

Gene: SOS2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50182541C>A , CM000676.2:g.50182541C>A	GRCh38
NC_000014.8:g.50649259C>A , CM000676.1:g.50649259C>A	GRCh37
NC_000014.7:g.49719009C>A	NCBI36
NG_051073.1:g.54153G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006939.4:c.780G>T MANE Select	NP_008870.2:p.Leu260Phe
ENST00000216373.10:c.780G>T MANE Select	ENSP00000216373.5:p.Leu260Phe
NM_006939.2:c.780G>T	NP_008870.2:p.Leu260Phe
NM_006939.3:c.780G>T	NP_008870.2:p.Leu260Phe
ENST00000216373.9:c.780G>T	ENSP00000216373.5:p.Leu260Phe
ENST00000543680.5:c.780G>T	ENSP00000445328.1:p.Leu260Phe
ENST00000556469.5:n.547G>T
XM_005268021.1:c.600G>T	XP_005268078.1:p.Leu200Phe
XM_011537103.1:c.741G>T	XP_011535405.1:p.Leu247Phe
XM_011537104.1:c.780G>T	XP_011535406.1:p.Leu260Phe
XR_943842.1:n.954-1246C>A
XR_943843.1:n.954-1246C>A