Canonical Allele Identifier: CA7177436

Gene: SOS2

Linked Data

• dbSNP Id: rs772635504
• ExAC: 14:50649159 A / G
• gnomAD v2: 14-50649159-A-G
• gnomAD v4: 14-50182441-A-G
• MyVariant Identifiers: chr14:g.50649159A>G (hg19) ; chr14:g.50182441A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50182441A>G , CM000676.2:g.50182441A>G	GRCh38
NC_000014.8:g.50649159A>G , CM000676.1:g.50649159A>G	GRCh37
NC_000014.7:g.49718909A>G	NCBI36
NG_051073.1:g.54253T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.858+22T>C MANE Select	ENSP00000216373.5:n.858+22T>C
ENST00000216373.9:c.858+22T>C	ENSP00000216373.5:n.858+22T>C
ENST00000543680.5:c.858+22T>C	ENSP00000445328.1:n.858+22T>C
NM_006939.2:c.858+22T>C	NP_008870.2:n.858+22T>C
XM_005268021.1:c.678+22T>C	XP_005268078.1:n.678+22T>C
XM_011537103.1:c.819+22T>C	XP_011535405.1:n.819+22T>C
XM_011537104.1:c.858+22T>C	XP_011535406.1:n.858+22T>C
XR_943842.1:n.954-1346A>G
XR_943843.1:n.954-1346A>G
NM_006939.3:c.858+22T>C	NP_008870.2:n.858+22T>C
NM_006939.4:c.858+22T>C MANE Select	NP_008870.2:n.858+22T>C