Canonical Allele Identifier: CA7177493

Gene: SOS2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50188619T>A , CM000676.2:g.50188619T>A	GRCh38
NC_000014.8:g.50655337T>A , CM000676.1:g.50655337T>A	GRCh37
NC_000014.7:g.49725087T>A	NCBI36
NG_051073.1:g.48075A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006939.4:c.592A>T MANE Select	NP_008870.2:p.Asn198Tyr
ENST00000216373.10:c.592A>T MANE Select	ENSP00000216373.5:p.Asn198Tyr
NM_006939.2:c.592A>T	NP_008870.2:p.Asn198Tyr
NM_006939.3:c.592A>T	NP_008870.2:p.Asn198Tyr
ENST00000216373.9:c.592A>T	ENSP00000216373.5:p.Asn198Tyr
ENST00000543680.5:c.592A>T	ENSP00000445328.1:p.Asn198Tyr
ENST00000556469.5:n.482-6013A>T
XM_005268021.1:c.412A>T	XP_005268078.1:p.Asn138Tyr
XM_011537103.1:c.553A>T	XP_011535405.1:p.Asn185Tyr
XM_011537104.1:c.592A>T	XP_011535406.1:p.Asn198Tyr
XR_943842.1:n.1039+4747T>A
XR_943843.1:n.1039+4747T>A