Canonical Allele Identifier: CA389646992

Gene: SOS2

Linked Data

• MyVariant Identifiers: chr14:g.50647334A>C (hg19) ; chr14:g.50180616A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50180616A>C , CM000676.2:g.50180616A>C	GRCh38
NC_000014.8:g.50647334A>C , CM000676.1:g.50647334A>C	GRCh37
NC_000014.7:g.49717084A>C	NCBI36
NG_051073.1:g.56078T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.925T>G MANE Select	ENSP00000216373.5:p.Phe309Val
ENST00000216373.9:c.925T>G	ENSP00000216373.5:p.Phe309Val
ENST00000543680.5:c.925T>G	ENSP00000445328.1:p.Phe309Val
ENST00000555794.2:c.39T>G
NM_006939.2:c.925T>G	NP_008870.2:p.Phe309Val
XM_005268021.1:c.745T>G	XP_005268078.1:p.Phe249Val
XM_011537103.1:c.886T>G	XP_011535405.1:p.Phe296Val
XM_011537104.1:c.925T>G	XP_011535406.1:p.Phe309Val
XR_943842.1:n.954-3171A>C
XR_943843.1:n.954-3171A>C
NM_006939.3:c.925T>G	NP_008870.2:p.Phe309Val
NM_006939.4:c.925T>G MANE Select	NP_008870.2:p.Phe309Val