Canonical Allele Identifier: CA389648328

Gene: SOS2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50188681T>C , CM000676.2:g.50188681T>C	GRCh38
NC_000014.8:g.50655399T>C , CM000676.1:g.50655399T>C	GRCh37
NC_000014.7:g.49725149T>C	NCBI36
NG_051073.1:g.48013A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006939.4:c.530A>G MANE Select	NP_008870.2:p.Asp177Gly
ENST00000216373.10:c.530A>G MANE Select	ENSP00000216373.5:p.Asp177Gly
NM_006939.2:c.530A>G	NP_008870.2:p.Asp177Gly
NM_006939.3:c.530A>G	NP_008870.2:p.Asp177Gly
ENST00000216373.9:c.530A>G	ENSP00000216373.5:p.Asp177Gly
ENST00000543680.5:c.530A>G	ENSP00000445328.1:p.Asp177Gly
ENST00000556469.5:n.482-6075A>G
XM_005268021.1:c.350A>G	XP_005268078.1:p.Asp117Gly
XM_011537103.1:c.491A>G	XP_011535405.1:p.Asp164Gly
XM_011537104.1:c.530A>G	XP_011535406.1:p.Asp177Gly
XR_943842.1:n.1039+4809T>C
XR_943843.1:n.1039+4809T>C