Canonical Allele Identifier: CA7177260

Gene: SOS2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50159668G>A , CM000676.2:g.50159668G>A	GRCh38
NC_000014.8:g.50626386G>A , CM000676.1:g.50626386G>A	GRCh37
NC_000014.7:g.49696136G>A	NCBI36
NG_051073.1:g.77026C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006939.4:c.1615C>T MANE Select	NP_008870.2:p.Leu539Phe
ENST00000216373.10:c.1615C>T MANE Select	ENSP00000216373.5:p.Leu539Phe
NM_006939.2:c.1615C>T	NP_008870.2:p.Leu539Phe
NM_006939.3:c.1615C>T	NP_008870.2:p.Leu539Phe
ENST00000216373.9:c.1615C>T	ENSP00000216373.5:p.Leu539Phe
ENST00000543680.5:c.1516C>T	ENSP00000445328.1:p.Leu506Phe
ENST00000555794.2:c.729C>T
XM_005268021.1:c.1435C>T	XP_005268078.1:p.Leu479Phe
XM_011537103.1:c.1576C>T	XP_011535405.1:p.Leu526Phe
XM_011537104.1:c.1615C>T	XP_011535406.1:p.Leu539Phe