Canonical Allele Identifier: CA7177562

Gene: SOS2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50200960G>A , CM000676.2:g.50200960G>A	GRCh38
NC_000014.8:g.50667678G>A , CM000676.1:g.50667678G>A	GRCh37
NC_000014.7:g.49737428G>A	NCBI36
NG_051073.1:g.35734C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006939.4:c.338C>T MANE Select	NP_008870.2:p.Ser113Leu
ENST00000216373.10:c.338C>T MANE Select	ENSP00000216373.5:p.Ser113Leu
NM_006939.2:c.338C>T	NP_008870.2:p.Ser113Leu
NM_006939.3:c.338C>T	NP_008870.2:p.Ser113Leu
ENST00000216373.9:c.338C>T	ENSP00000216373.5:p.Ser113Leu
ENST00000543680.5:c.338C>T	ENSP00000445328.1:p.Ser113Leu
ENST00000555666.1:n.517C>T
ENST00000556469.5:n.309C>T
XM_005268021.1:c.158C>T	XP_005268078.1:p.Ser53Leu
XM_011537103.1:c.299C>T	XP_011535405.1:p.Ser100Leu
XM_011537104.1:c.338C>T	XP_011535406.1:p.Ser113Leu
XR_943842.1:n.1039+17088G>A
XR_943843.1:n.1039+17088G>A