Canonical Allele Identifier: CA7176935

Gene: SOS2

Linked Data

• ClinVar Variation Id: 517058
• ClinVar RCV Id: RCV000604982 ; RCV001518640 ; RCV001704835
• dbSNP Id: rs201957103
• ExAC: 14:50605507 T / TA
• gnomAD v2: 14-50605507-T-TA
• gnomAD v3: 14-50138789-T-TA
• gnomAD v4: 14-50138789-T-TA
• MyVariant Identifiers: chr14:g.50605508dup (hg19) ; chr14:g.50605510_50605511insA (hg19) ; chr14:g.50605509_50605510insA (hg19) ; chr14:g.50605507_50605508insA (hg19) ; chr14:g.50138790dup (hg38) ; chr14:g.50138791_50138792insA (hg38) ; chr14:g.50138789_50138790insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50138802dup , CM000676.2:g.50138802dup	GRCh38
NC_000014.8:g.50605520dup , CM000676.1:g.50605520dup	GRCh37
NC_000014.7:g.49675270dup	NCBI36
NG_051073.1:g.97904dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.2786-6dup MANE Select	ENSP00000216373.5:n.2786-6dup
ENST00000216373.9:c.2786-6dup	ENSP00000216373.5:n.2786-6dup
ENST00000543680.5:c.2687-6dup	ENSP00000445328.1:n.2687-6dup
NM_006939.2:c.2786-6dup	NP_008870.2:n.2786-6dup
XM_005268021.1:c.2606-6dup	XP_005268078.1:n.2606-6dup
XM_011537103.1:c.2747-6dup	XP_011535405.1:n.2747-6dup
XM_011537104.1:c.2785+1152dup	XP_011535406.1:n.2785+1152dup
NM_006939.3:c.2786-6dup	NP_008870.2:n.2786-6dup
NM_006939.4:c.2786-6dup MANE Select	NP_008870.2:n.2786-6dup