Canonical Allele Identifier: CA7177407

Gene: SOS2

Linked Data

• ClinVar Variation Id: 507171
• ClinVar RCV Id: RCV002062910
• dbSNP Id: rs559272877
• ExAC: 14:50647270 A / C
• gnomAD v2: 14-50647270-A-C
• gnomAD v3: 14-50180552-A-C
• gnomAD v4: 14-50180552-A-C
• MyVariant Identifiers: chr14:g.50647270A>C (hg19) ; chr14:g.50647270_50647272delinsCAC (hg19) ; chr14:g.50647270_50647276delinsCACCTTC (hg19) ; chr14:g.50180552A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50180552A>C , CM000676.2:g.50180552A>C	GRCh38
NC_000014.8:g.50647270A>C , CM000676.1:g.50647270A>C	GRCh37
NC_000014.7:g.49717020A>C	NCBI36
NG_051073.1:g.56142T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000216373.10:c.969+20T>G MANE Select	ENSP00000216373.5:n.969+20T>G
ENST00000216373.9:c.969+20T>G	ENSP00000216373.5:n.969+20T>G
ENST00000543680.5:c.969+20T>G	ENSP00000445328.1:n.969+20T>G
ENST00000555794.2:c.83+20T>G
NM_006939.2:c.969+20T>G	NP_008870.2:n.969+20T>G
XM_005268021.1:c.789+20T>G	XP_005268078.1:n.789+20T>G
XM_011537103.1:c.930+20T>G	XP_011535405.1:n.930+20T>G
XM_011537104.1:c.969+20T>G	XP_011535406.1:n.969+20T>G
XR_943842.1:n.954-3235A>C
XR_943843.1:n.954-3235A>C
NM_006939.3:c.969+20T>G	NP_008870.2:n.969+20T>G
NM_006939.4:c.969+20T>G MANE Select	NP_008870.2:n.969+20T>G