Canonical Allele Identifier: CA2575520728

Gene: SOS2

Linked Data

• ClinVar Variation Id: 2976252
• ClinVar RCV Id: RCV003836402
• gnomAD v4: 14-50199866-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50199866A>G , CM000676.2:g.50199866A>G	GRCh38
NC_000014.8:g.50666584A>G , CM000676.1:g.50666584A>G	GRCh37
NC_000014.7:g.49736334A>G	NCBI36
NG_051073.1:g.36828T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.346-11T>C MANE Select	ENSP00000216373.5:n.346-11T>C
ENST00000216373.9:c.346-11T>C	ENSP00000216373.5:n.346-11T>C
ENST00000543680.5:c.346-11T>C	ENSP00000445328.1:n.346-11T>C
ENST00000555666.1:n.525-11T>C
ENST00000556469.5:n.317-11T>C
NM_006939.2:c.346-11T>C	NP_008870.2:n.346-11T>C
XM_005268021.1:c.166-11T>C	XP_005268078.1:n.166-11T>C
XM_011537103.1:c.307-11T>C	XP_011535405.1:n.307-11T>C
XM_011537104.1:c.346-11T>C	XP_011535406.1:n.346-11T>C
XR_943842.1:n.1039+15994A>G
XR_943843.1:n.1039+15994A>G
NM_006939.3:c.346-11T>C	NP_008870.2:n.346-11T>C
NM_006939.4:c.346-11T>C MANE Select	NP_008870.2:n.346-11T>C