Canonical Allele Identifier: CA7177431

Gene: SOS2

Linked Data

• ClinVar Variation Id: 561631
• ClinVar RCV Id: RCV000680964
• dbSNP Id: rs148013479
• ExAC: 14:50649141 T / C
• gnomAD v2: 14-50649141-T-C
• gnomAD v3: 14-50182423-T-C
• gnomAD v4: 14-50182423-T-C
• MyVariant Identifiers: chr14:g.50649141T>C (hg19) ; chr14:g.50182423T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50182423T>C , CM000676.2:g.50182423T>C	GRCh38
NC_000014.8:g.50649141T>C , CM000676.1:g.50649141T>C	GRCh37
NC_000014.7:g.49718891T>C	NCBI36
NG_051073.1:g.54271A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000216373.10:c.858+40A>G MANE Select	ENSP00000216373.5:n.858+40A>G
ENST00000216373.9:c.858+40A>G	ENSP00000216373.5:n.858+40A>G
ENST00000543680.5:c.858+40A>G	ENSP00000445328.1:n.858+40A>G
NM_006939.2:c.858+40A>G	NP_008870.2:n.858+40A>G
XM_005268021.1:c.678+40A>G	XP_005268078.1:n.678+40A>G
XM_011537103.1:c.819+40A>G	XP_011535405.1:n.819+40A>G
XM_011537104.1:c.858+40A>G	XP_011535406.1:n.858+40A>G
XR_943842.1:n.954-1364T>C
XR_943843.1:n.954-1364T>C
NM_006939.3:c.858+40A>G	NP_008870.2:n.858+40A>G
NM_006939.4:c.858+40A>G MANE Select	NP_008870.2:n.858+40A>G