Canonical Allele Identifier: CA389647126

Gene: SOS2

Linked Data

• ClinVar Variation Id: 3039811
• ClinVar RCV Id: RCV003931827
• MyVariant Identifiers: chr14:g.50647391A>G (hg19) ; chr14:g.50180673A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50180673A>G , CM000676.2:g.50180673A>G	GRCh38
NC_000014.8:g.50647391A>G , CM000676.1:g.50647391A>G	GRCh37
NC_000014.7:g.49717141A>G	NCBI36
NG_051073.1:g.56021T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.868T>C MANE Select	ENSP00000216373.5:p.Phe290Leu
ENST00000216373.9:c.868T>C	ENSP00000216373.5:p.Phe290Leu
ENST00000543680.5:c.868T>C	ENSP00000445328.1:p.Phe290Leu
NM_006939.2:c.868T>C	NP_008870.2:p.Phe290Leu
XM_005268021.1:c.688T>C	XP_005268078.1:p.Phe230Leu
XM_011537103.1:c.829T>C	XP_011535405.1:p.Phe277Leu
XM_011537104.1:c.868T>C	XP_011535406.1:p.Phe290Leu
XR_943842.1:n.954-3114A>G
XR_943843.1:n.954-3114A>G
NM_006939.3:c.868T>C	NP_008870.2:p.Phe290Leu
NM_006939.4:c.868T>C MANE Select	NP_008870.2:p.Phe290Leu