Canonical Allele Identifier: CA389647946

Gene: SOS2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50188506A>T , CM000676.2:g.50188506A>T	GRCh38
NC_000014.8:g.50655224A>T , CM000676.1:g.50655224A>T	GRCh37
NC_000014.7:g.49724974A>T	NCBI36
NG_051073.1:g.48188T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006939.4:c.705T>A MANE Select	NP_008870.2:p.Phe235Leu
ENST00000216373.10:c.705T>A MANE Select	ENSP00000216373.5:p.Phe235Leu
NM_006939.2:c.705T>A	NP_008870.2:p.Phe235Leu
NM_006939.3:c.705T>A	NP_008870.2:p.Phe235Leu
ENST00000216373.9:c.705T>A	ENSP00000216373.5:p.Phe235Leu
ENST00000543680.5:c.705T>A	ENSP00000445328.1:p.Phe235Leu
ENST00000556469.5:n.482-5900T>A
XM_005268021.1:c.525T>A	XP_005268078.1:p.Phe175Leu
XM_011537103.1:c.666T>A	XP_011535405.1:p.Phe222Leu
XM_011537104.1:c.705T>A	XP_011535406.1:p.Phe235Leu
XR_943842.1:n.1039+4634A>T
XR_943843.1:n.1039+4634A>T