Canonical Allele Identifier: CA486172788

Gene: SOS2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50188518A>G , CM000676.2:g.50188518A>G	GRCh38
NC_000014.8:g.50655236A>G , CM000676.1:g.50655236A>G	GRCh37
NC_000014.7:g.49724986A>G	NCBI36
NG_051073.1:g.48176T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006939.4:c.693T>C MANE Select	NP_008870.2:p.Asp231=
ENST00000216373.10:c.693T>C MANE Select	ENSP00000216373.5:p.Asp231=
NM_006939.2:c.693T>C	NP_008870.2:p.Asp231=
NM_006939.3:c.693T>C	NP_008870.2:p.Asp231=
ENST00000216373.9:c.693T>C	ENSP00000216373.5:p.Asp231=
ENST00000543680.5:c.693T>C	ENSP00000445328.1:p.Asp231=
ENST00000556469.5:n.482-5912T>C
XM_005268021.1:c.513T>C	XP_005268078.1:p.Asp171=
XM_011537103.1:c.654T>C	XP_011535405.1:p.Asp218=
XM_011537104.1:c.693T>C	XP_011535406.1:p.Asp231=
XR_943842.1:n.1039+4646A>G
XR_943843.1:n.1039+4646A>G