Canonical Allele Identifier: CA7177109

Gene: SOS2

Linked Data

• dbSNP Id: rs371948251
• ExAC: 14:50616986 T / C
• gnomAD v2: 14-50616986-T-C
• gnomAD v3: 14-50150268-T-C
• gnomAD v4: 14-50150268-T-C
• MyVariant Identifiers: chr14:g.50616986T>C (hg19) ; chr14:g.50150268T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50150268T>C , CM000676.2:g.50150268T>C	GRCh38
NC_000014.8:g.50616986T>C , CM000676.1:g.50616986T>C	GRCh37
NC_000014.7:g.49686736T>C	NCBI36
NG_051073.1:g.86426A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000216373.10:c.2162-38A>G MANE Select	ENSP00000216373.5:n.2162-38A>G
ENST00000216373.9:c.2162-38A>G	ENSP00000216373.5:n.2162-38A>G
ENST00000543680.5:c.2063-38A>G	ENSP00000445328.1:n.2063-38A>G
NM_006939.2:c.2162-38A>G	NP_008870.2:n.2162-38A>G
XM_005268021.1:c.1982-38A>G	XP_005268078.1:n.1982-38A>G
XM_011537103.1:c.2123-38A>G	XP_011535405.1:n.2123-38A>G
XM_011537104.1:c.2162-38A>G	XP_011535406.1:n.2162-38A>G
NM_006939.3:c.2162-38A>G	NP_008870.2:n.2162-38A>G
NM_006939.4:c.2162-38A>G MANE Select	NP_008870.2:n.2162-38A>G