Canonical Allele Identifier: CA7177244

Gene: SOS2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50159551T>C , CM000676.2:g.50159551T>C	GRCh38
NC_000014.8:g.50626269T>C , CM000676.1:g.50626269T>C	GRCh37
NC_000014.7:g.49696019T>C	NCBI36
NG_051073.1:g.77143A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006939.4:c.1732A>G MANE Select	NP_008870.2:p.Lys578Glu
ENST00000216373.10:c.1732A>G MANE Select	ENSP00000216373.5:p.Lys578Glu
NM_006939.2:c.1732A>G	NP_008870.2:p.Lys578Glu
NM_006939.3:c.1732A>G	NP_008870.2:p.Lys578Glu
ENST00000216373.9:c.1732A>G	ENSP00000216373.5:p.Lys578Glu
ENST00000543680.5:c.1633A>G	ENSP00000445328.1:p.Lys545Glu
ENST00000555794.2:c.846A>G
XM_005268021.1:c.1552A>G	XP_005268078.1:p.Lys518Glu
XM_011537103.1:c.1693A>G	XP_011535405.1:p.Lys565Glu
XM_011537104.1:c.1732A>G	XP_011535406.1:p.Lys578Glu