Canonical Allele Identifier: CA7177525

Gene: SOS2

Linked Data

• ClinVar Variation Id: 705054
• ClinVar RCV Id: RCV000875326 ; RCV001813564 ; RCV002320046 ; RCV003387943 ; RCV003955729
• dbSNP Id: rs144584870
• ExAC: 14:50666520 T / G
• gnomAD v2: 14-50666520-T-G
• gnomAD v3: 14-50199802-T-G
• gnomAD v4: 14-50199802-T-G
• MyVariant Identifiers: chr14:g.50666520T>G (hg19) ; chr14:g.50199802T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50199802T>G , CM000676.2:g.50199802T>G	GRCh38
NC_000014.8:g.50666520T>G , CM000676.1:g.50666520T>G	GRCh37
NC_000014.7:g.49736270T>G	NCBI36
NG_051073.1:g.36892A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.399A>C MANE Select	ENSP00000216373.5:p.Val133=
ENST00000216373.9:c.399A>C	ENSP00000216373.5:p.Val133=
ENST00000543680.5:c.399A>C	ENSP00000445328.1:p.Val133=
ENST00000555666.1:n.578A>C
ENST00000556469.5:n.370A>C
NM_006939.2:c.399A>C	NP_008870.2:p.Val133=
XM_005268021.1:c.219A>C	XP_005268078.1:p.Val73=
XM_011537103.1:c.360A>C	XP_011535405.1:p.Val120=
XM_011537104.1:c.399A>C	XP_011535406.1:p.Val133=
XR_943842.1:n.1039+15930T>G
XR_943843.1:n.1039+15930T>G
NM_006939.3:c.399A>C	NP_008870.2:p.Val133=
NM_006939.4:c.399A>C MANE Select	NP_008870.2:p.Val133=