Canonical Allele Identifier: CA389640518

Gene: SOS2

Linked Data

• MyVariant Identifiers: chr14:g.50597299G>C (hg19) ; chr14:g.50130581G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50130581G>C , CM000676.2:g.50130581G>C	GRCh38
NC_000014.8:g.50597299G>C , CM000676.1:g.50597299G>C	GRCh37
NC_000014.7:g.49667049G>C	NCBI36
NG_051073.1:g.106113C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.3257C>G MANE Select	ENSP00000216373.5:p.Pro1086Arg
ENST00000216373.9:c.3257C>G	ENSP00000216373.5:p.Pro1086Arg
ENST00000543680.5:c.3158C>G	ENSP00000445328.1:p.Pro1053Arg
NM_006939.2:c.3257C>G	NP_008870.2:p.Pro1086Arg
XM_005268021.1:c.3077C>G	XP_005268078.1:p.Pro1026Arg
XM_011537103.1:c.3218C>G	XP_011535405.1:p.Pro1073Arg
NM_006939.3:c.3257C>G	NP_008870.2:p.Pro1086Arg
NM_006939.4:c.3257C>G MANE Select	NP_008870.2:p.Pro1086Arg