Canonical Allele Identifier: CA358853

Gene: SOS2

Linked Data

• ClinVar Variation Id: 209091
• ClinVar RCV Id: RCV000191030 ; RCV000224178 ; RCV000845122 ; RCV003454490
• dbSNP Id: rs869320687
• MyVariant Identifiers: chr14:g.50628269G>C (hg19) ; chr14:g.50161551G>C (hg38)
• PubMed: PMID:25795793

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50161551G>C , CM000676.2:g.50161551G>C	GRCh38
NC_000014.8:g.50628269G>C , CM000676.1:g.50628269G>C	GRCh37
NC_000014.7:g.49698019G>C	NCBI36
NG_051073.1:g.75143C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.1127C>G MANE Select	ENSP00000216373.5:p.Thr376Ser
ENST00000216373.9:c.1127C>G	ENSP00000216373.5:p.Thr376Ser
ENST00000543680.5:c.1028C>G	ENSP00000445328.1:p.Thr343Ser
ENST00000555794.2:c.241C>G
NM_006939.2:c.1127C>G	NP_008870.2:p.Thr376Ser
XM_005268021.1:c.947C>G	XP_005268078.1:p.Thr316Ser
XM_011537103.1:c.1088C>G	XP_011535405.1:p.Thr363Ser
XM_011537104.1:c.1127C>G	XP_011535406.1:p.Thr376Ser
NM_006939.3:c.1127C>G	NP_008870.2:p.Thr376Ser
NM_006939.4:c.1127C>G MANE Select	NP_008870.2:p.Thr376Ser