Canonical Allele Identifier: CA389649596

Gene: SOS2

Linked Data

• ClinVar Variation Id: 1740268
• ClinVar RCV Id: RCV002333687 ; RCV003591938
• dbSNP Id: rs1435992315
• gnomAD v3: 14-50199762-T-C
• gnomAD v4: 14-50199762-T-C
• MyVariant Identifiers: chr14:g.50666480T>C (hg19) ; chr14:g.50199762T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50199762T>C , CM000676.2:g.50199762T>C	GRCh38
NC_000014.8:g.50666480T>C , CM000676.1:g.50666480T>C	GRCh37
NC_000014.7:g.49736230T>C	NCBI36
NG_051073.1:g.36932A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.439A>G MANE Select	ENSP00000216373.5:p.Asn147Asp
ENST00000216373.9:c.439A>G	ENSP00000216373.5:p.Asn147Asp
ENST00000543680.5:c.439A>G	ENSP00000445328.1:p.Asn147Asp
ENST00000555666.1:n.618A>G
ENST00000556469.5:n.410A>G
NM_006939.2:c.439A>G	NP_008870.2:p.Asn147Asp
XM_005268021.1:c.259A>G	XP_005268078.1:p.Asn87Asp
XM_011537103.1:c.400A>G	XP_011535405.1:p.Asn134Asp
XM_011537104.1:c.439A>G	XP_011535406.1:p.Asn147Asp
XR_943842.1:n.1039+15890T>C
XR_943843.1:n.1039+15890T>C
NM_006939.3:c.439A>G	NP_008870.2:p.Asn147Asp
NM_006939.4:c.439A>G MANE Select	NP_008870.2:p.Asn147Asp