Canonical Allele Identifier: CA613838913

Gene: SOS2

Linked Data

• ClinVar Variation Id: 2848191
• ClinVar RCV Id: RCV003755776
• dbSNP Id: rs1435577590
• gnomAD v2: 14-50647419-A-T
• gnomAD v4: 14-50180701-A-T
• MyVariant Identifiers: chr14:g.50647419A>T (hg19) ; chr14:g.50180701A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50180701A>T , CM000676.2:g.50180701A>T	GRCh38
NC_000014.8:g.50647419A>T , CM000676.1:g.50647419A>T	GRCh37
NC_000014.7:g.49717169A>T	NCBI36
NG_051073.1:g.55993T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.859-19T>A MANE Select	ENSP00000216373.5:n.859-19T>A
ENST00000216373.9:c.859-19T>A	ENSP00000216373.5:n.859-19T>A
ENST00000543680.5:c.859-19T>A	ENSP00000445328.1:n.859-19T>A
NM_006939.2:c.859-19T>A	NP_008870.2:n.859-19T>A
XM_005268021.1:c.679-19T>A	XP_005268078.1:n.679-19T>A
XM_011537103.1:c.820-19T>A	XP_011535405.1:n.820-19T>A
XM_011537104.1:c.859-19T>A	XP_011535406.1:n.859-19T>A
XR_943842.1:n.954-3086A>T
XR_943843.1:n.954-3086A>T
NM_006939.3:c.859-19T>A	NP_008870.2:n.859-19T>A
NM_006939.4:c.859-19T>A MANE Select	NP_008870.2:n.859-19T>A