Canonical Allele Identifier: CA7176895

Gene: SOS2

Linked Data

• ClinVar Variation Id: 280923
• ClinVar RCV Id: RCV000261274 ; RCV001855076 ; RCV002436096
• dbSNP Id: rs776000121
• ExAC: 14:50600938 T / A
• gnomAD v2: 14-50600938-T-A
• gnomAD v3: 14-50134220-T-A
• gnomAD v4: 14-50134220-T-A
• MyVariant Identifiers: chr14:g.50600938T>A (hg19) ; chr14:g.50134220T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50134220T>A , CM000676.2:g.50134220T>A	GRCh38
NC_000014.8:g.50600938T>A , CM000676.1:g.50600938T>A	GRCh37
NC_000014.7:g.49670688T>A	NCBI36
NG_051073.1:g.102474A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.2978A>T MANE Select	ENSP00000216373.5:p.Asn993Ile
ENST00000216373.9:c.2978A>T	ENSP00000216373.5:p.Asn993Ile
ENST00000543680.5:c.2879A>T	ENSP00000445328.1:p.Asn960Ile
NM_006939.2:c.2978A>T	NP_008870.2:p.Asn993Ile
XM_005268021.1:c.2798A>T	XP_005268078.1:p.Asn933Ile
XM_011537103.1:c.2939A>T	XP_011535405.1:p.Asn980Ile
XM_011537104.1:c.*9A>T	XP_011535406.1:n.*9A>T
NM_006939.3:c.2978A>T	NP_008870.2:p.Asn993Ile
NM_006939.4:c.2978A>T MANE Select	NP_008870.2:p.Asn993Ile