Canonical Allele Identifier: CA486169368

Gene: SOS2

Linked Data

• ClinVar Variation Id: 1766921
• ClinVar RCV Id: RCV002373993 ; RCV003754962
• MyVariant Identifiers: chr14:g.50647317G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50180599G>C , CM000676.2:g.50180599G>C	GRCh38
NC_000014.8:g.50647317G>C , CM000676.1:g.50647317G>C	GRCh37
NC_000014.7:g.49717067G>C	NCBI36
NG_051073.1:g.56095C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.942C>G MANE Select	ENSP00000216373.5:p.Ala314=
ENST00000216373.9:c.942C>G	ENSP00000216373.5:p.Ala314=
ENST00000543680.5:c.942C>G	ENSP00000445328.1:p.Ala314=
ENST00000555794.2:c.56C>G
NM_006939.2:c.942C>G	NP_008870.2:p.Ala314=
XM_005268021.1:c.762C>G	XP_005268078.1:p.Ala254=
XM_011537103.1:c.903C>G	XP_011535405.1:p.Ala301=
XM_011537104.1:c.942C>G	XP_011535406.1:p.Ala314=
XR_943842.1:n.954-3188G>C
XR_943843.1:n.954-3188G>C
NM_006939.3:c.942C>G	NP_008870.2:p.Ala314=
NM_006939.4:c.942C>G MANE Select	NP_008870.2:p.Ala314=