Canonical Allele Identifier: CA613838911

Gene: SOS2

Linked Data

• ClinVar Variation Id: 2067403
• ClinVar RCV Id: RCV002953934
• dbSNP Id: rs1347885328
• gnomAD v2: 14-50647414-AAG-A
• gnomAD v3: 14-50180696-AAG-A
• gnomAD v4: 14-50180696-AAG-A
• MyVariant Identifiers: chr14:g.50647415_50647416del (hg19) ; chr14:g.50180697_50180698del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50180700_50180701del , CM000676.2:g.50180700_50180701del	GRCh38
NC_000014.8:g.50647418_50647419del , CM000676.1:g.50647418_50647419del	GRCh37
NC_000014.7:g.49717168_49717169del	NCBI36
NG_051073.1:g.55996_55997del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.859-16_859-15del MANE Select	ENSP00000216373.5:n.859-16_859-15del
ENST00000216373.9:c.859-16_859-15del	ENSP00000216373.5:n.859-16_859-15del
ENST00000543680.5:c.859-16_859-15del	ENSP00000445328.1:n.859-16_859-15del
NM_006939.2:c.859-16_859-15del	NP_008870.2:n.859-16_859-15del
XM_005268021.1:c.679-16_679-15del	XP_005268078.1:n.679-16_679-15del
XM_011537103.1:c.820-16_820-15del	XP_011535405.1:n.820-16_820-15del
XM_011537104.1:c.859-16_859-15del	XP_011535406.1:n.859-16_859-15del
XR_943842.1:n.954-3087_954-3086del
XR_943843.1:n.954-3087_954-3086del
NM_006939.3:c.859-16_859-15del	NP_008870.2:n.859-16_859-15del
NM_006939.4:c.859-16_859-15del MANE Select	NP_008870.2:n.859-16_859-15del