Canonical Allele Identifier: CA260703957

Gene: SOS2

Linked Data

• ClinVar Variation Id: 1443246
• ClinVar RCV Id: RCV001960465 ; RCV003120767 ; RCV003170074
• dbSNP Id: rs1005498417
• gnomAD v2: 14-50585247-G-A
• gnomAD v3: 14-50118529-G-A
• gnomAD v4: 14-50118529-G-A
• COSMIC: COSM955991 ; COSM955992
• MyVariant Identifiers: chr14:g.50585247G>A (hg19) ; chr14:g.50118529G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50118529G>A , CM000676.2:g.50118529G>A	GRCh38
NC_000014.8:g.50585247G>A , CM000676.1:g.50585247G>A	GRCh37
NC_000014.7:g.49654997G>A	NCBI36
NG_051073.1:g.118165C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.3814C>T MANE Select	ENSP00000216373.5:p.Arg1272Cys
ENST00000216373.9:c.3814C>T	ENSP00000216373.5:p.Arg1272Cys
ENST00000543680.5:c.3715C>T	ENSP00000445328.1:p.Arg1239Cys
NM_006939.2:c.3814C>T	NP_008870.2:p.Arg1272Cys
XM_005268021.1:c.3634C>T	XP_005268078.1:p.Arg1212Cys
XM_011537103.1:c.3775C>T	XP_011535405.1:p.Arg1259Cys
NM_006939.3:c.3814C>T	NP_008870.2:p.Arg1272Cys
NM_006939.4:c.3814C>T MANE Select	NP_008870.2:p.Arg1272Cys