Canonical Allele Identifier: CA7176775

Gene: SOS2

Linked Data

• ClinVar Variation Id: 384723
• ClinVar RCV Id: RCV000587777 ; RCV002058933
• dbSNP Id: rs79858475
• ExAC: 14:50585589 T / G
• gnomAD v2: 14-50585589-T-G
• gnomAD v3: 14-50118871-T-G
• gnomAD v4: 14-50118871-T-G
• MyVariant Identifiers: chr14:g.50585589T>G (hg19) ; chr14:g.50118871T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50118871T>G , CM000676.2:g.50118871T>G	GRCh38
NC_000014.8:g.50585589T>G , CM000676.1:g.50585589T>G	GRCh37
NC_000014.7:g.49655339T>G	NCBI36
NG_051073.1:g.117823A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.3490-18A>C MANE Select	ENSP00000216373.5:n.3490-18A>C
ENST00000216373.9:c.3490-18A>C	ENSP00000216373.5:n.3490-18A>C
ENST00000543680.5:c.3391-18A>C	ENSP00000445328.1:n.3391-18A>C
NM_006939.2:c.3490-18A>C	NP_008870.2:n.3490-18A>C
XM_005268021.1:c.3310-18A>C	XP_005268078.1:n.3310-18A>C
XM_011537103.1:c.3451-18A>C	XP_011535405.1:n.3451-18A>C
NM_006939.3:c.3490-18A>C	NP_008870.2:n.3490-18A>C
NM_006939.4:c.3490-18A>C MANE Select	NP_008870.2:n.3490-18A>C