Canonical Allele Identifier: CA7177539

Gene: SOS2

Linked Data

• ClinVar Variation Id: 509652
• ClinVar RCV Id: RCV000601292 ; RCV000876894
• dbSNP Id: rs146395803
• ExAC: 14:50666583 G / C
• gnomAD v2: 14-50666583-G-C
• gnomAD v3: 14-50199865-G-C
• gnomAD v4: 14-50199865-G-C
• MyVariant Identifiers: chr14:g.50666583G>C (hg19) ; chr14:g.50199865G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50199865G>C , CM000676.2:g.50199865G>C	GRCh38
NC_000014.8:g.50666583G>C , CM000676.1:g.50666583G>C	GRCh37
NC_000014.7:g.49736333G>C	NCBI36
NG_051073.1:g.36829C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.346-10C>G MANE Select	ENSP00000216373.5:n.346-10C>G
ENST00000216373.9:c.346-10C>G	ENSP00000216373.5:n.346-10C>G
ENST00000543680.5:c.346-10C>G	ENSP00000445328.1:n.346-10C>G
ENST00000555666.1:n.525-10C>G
ENST00000556469.5:n.317-10C>G
NM_006939.2:c.346-10C>G	NP_008870.2:n.346-10C>G
XM_005268021.1:c.166-10C>G	XP_005268078.1:n.166-10C>G
XM_011537103.1:c.307-10C>G	XP_011535405.1:n.307-10C>G
XM_011537104.1:c.346-10C>G	XP_011535406.1:n.346-10C>G
XR_943842.1:n.1039+15993G>C
XR_943843.1:n.1039+15993G>C
NM_006939.3:c.346-10C>G	NP_008870.2:n.346-10C>G
NM_006939.4:c.346-10C>G MANE Select	NP_008870.2:n.346-10C>G