Canonical Allele Identifier: CA7176753

Gene: SOS2

Linked Data

• ClinVar Variation Id: 475754
• ClinVar RCV Id: RCV000527284 ; RCV001797104 ; RCV001813500 ; RCV003235287 ; RCV002456251
• dbSNP Id: rs765097073
• ExAC: 14:50585512 T / TGGA
• gnomAD v2: 14-50585512-T-TGGA
• gnomAD v3: 14-50118794-T-TGGA
• gnomAD v4: 14-50118794-T-TGGA
• MyVariant Identifiers: chr14:g.50585513_50585515dup (hg19) ; chr14:g.50585515_50585516insGGA (hg19) ; chr14:g.50585512_50585513insGGA (hg19) ; chr14:g.50118795_50118797dup (hg38) ; chr14:g.50118794_50118795insGGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50118803_50118805dup , CM000676.2:g.50118803_50118805dup	GRCh38
NC_000014.8:g.50585521_50585523dup , CM000676.1:g.50585521_50585523dup	GRCh37
NC_000014.7:g.49655271_49655273dup	NCBI36
NG_051073.1:g.117897_117899dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.3546_3548dup MANE Select	ENSP00000216373.5:p.Pro1183_Lys1184insPro
ENST00000216373.9:c.3546_3548dup	ENSP00000216373.5:p.Pro1183_Lys1184insPro
ENST00000543680.5:c.3447_3449dup	ENSP00000445328.1:p.Pro1150_Lys1151insPro
NM_006939.2:c.3546_3548dup	NP_008870.2:p.Pro1183_Lys1184insPro
XM_005268021.1:c.3366_3368dup	XP_005268078.1:p.Pro1123_Lys1124insPro
XM_011537103.1:c.3507_3509dup	XP_011535405.1:p.Pro1170_Lys1171insPro
NM_006939.3:c.3546_3548dup	NP_008870.2:p.Pro1183_Lys1184insPro
NM_006939.4:c.3546_3548dup MANE Select	NP_008870.2:p.Pro1183_Lys1184insPro