Canonical Allele Identifier: CA389647067

Gene: SOS2

Linked Data

• gnomAD v4: 14-50180648-T-C
• COSMIC: COSM4934547 ; COSM4934548
• MyVariant Identifiers: chr14:g.50647366T>C (hg19) ; chr14:g.50180648T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50180648T>C , CM000676.2:g.50180648T>C	GRCh38
NC_000014.8:g.50647366T>C , CM000676.1:g.50647366T>C	GRCh37
NC_000014.7:g.49717116T>C	NCBI36
NG_051073.1:g.56046A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.893A>G MANE Select	ENSP00000216373.5:p.Gln298Arg
ENST00000216373.9:c.893A>G	ENSP00000216373.5:p.Gln298Arg
ENST00000543680.5:c.893A>G	ENSP00000445328.1:p.Gln298Arg
ENST00000555794.2:c.7A>G
NM_006939.2:c.893A>G	NP_008870.2:p.Gln298Arg
XM_005268021.1:c.713A>G	XP_005268078.1:p.Gln238Arg
XM_011537103.1:c.854A>G	XP_011535405.1:p.Gln285Arg
XM_011537104.1:c.893A>G	XP_011535406.1:p.Gln298Arg
XR_943842.1:n.954-3139T>C
XR_943843.1:n.954-3139T>C
NM_006939.3:c.893A>G	NP_008870.2:p.Gln298Arg
NM_006939.4:c.893A>G MANE Select	NP_008870.2:p.Gln298Arg