Canonical Allele Identifier: CA389640400

Gene: SOS2

Linked Data

• ClinVar Variation Id: 3236593
• ClinVar RCV Id: RCV004555976
• MyVariant Identifiers: chr14:g.50597251A>C (hg19) ; chr14:g.50130533A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50130533A>C , CM000676.2:g.50130533A>C	GRCh38
NC_000014.8:g.50597251A>C , CM000676.1:g.50597251A>C	GRCh37
NC_000014.7:g.49667001A>C	NCBI36
NG_051073.1:g.106161T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.3305T>G MANE Select	ENSP00000216373.5:p.Val1102Gly
ENST00000216373.9:c.3305T>G	ENSP00000216373.5:p.Val1102Gly
ENST00000543680.5:c.3206T>G	ENSP00000445328.1:p.Val1069Gly
NM_006939.2:c.3305T>G	NP_008870.2:p.Val1102Gly
XM_005268021.1:c.3125T>G	XP_005268078.1:p.Val1042Gly
XM_011537103.1:c.3266T>G	XP_011535405.1:p.Val1089Gly
NM_006939.3:c.3305T>G	NP_008870.2:p.Val1102Gly
NM_006939.4:c.3305T>G MANE Select	NP_008870.2:p.Val1102Gly