Canonical Allele Identifier: CA16021005

Gene: SOS2

Linked Data

• ClinVar Variation Id: 684625
• ClinVar RCV Id: RCV000845123 ; RCV003223414
• dbSNP Id: rs1594982548
• COSMIC: COSM5610669 ; COSM5610670
• MyVariant Identifiers: chr14:g.50628270T>A (hg19) ; chr14:g.50161552T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50161552T>A , CM000676.2:g.50161552T>A	GRCh38
NC_000014.8:g.50628270T>A , CM000676.1:g.50628270T>A	GRCh37
NC_000014.7:g.49698020T>A	NCBI36
NG_051073.1:g.75142A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.1126A>T MANE Select	ENSP00000216373.5:p.Thr376Ser
ENST00000216373.9:c.1126A>T	ENSP00000216373.5:p.Thr376Ser
ENST00000543680.5:c.1027A>T	ENSP00000445328.1:p.Thr343Ser
ENST00000555794.2:c.240A>T
NM_006939.2:c.1126A>T	NP_008870.2:p.Thr376Ser
XM_005268021.1:c.946A>T	XP_005268078.1:p.Thr316Ser
XM_011537103.1:c.1087A>T	XP_011535405.1:p.Thr363Ser
XM_011537104.1:c.1126A>T	XP_011535406.1:p.Thr376Ser
NM_006939.3:c.1126A>T	NP_008870.2:p.Thr376Ser
NM_006939.4:c.1126A>T MANE Select	NP_008870.2:p.Thr376Ser