Canonical Allele Identifier: CA7177524

Gene: SOS2

Linked Data

• ClinVar Variation Id: 1531114
• ClinVar RCV Id: RCV002099562
• dbSNP Id: rs754980356
• ExAC: 14:50666514 C / T
• gnomAD v2: 14-50666514-C-T
• gnomAD v4: 14-50199796-C-T
• MyVariant Identifiers: chr14:g.50666514C>T (hg19) ; chr14:g.50199796C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50199796C>T , CM000676.2:g.50199796C>T	GRCh38
NC_000014.8:g.50666514C>T , CM000676.1:g.50666514C>T	GRCh37
NC_000014.7:g.49736264C>T	NCBI36
NG_051073.1:g.36898G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.405G>A MANE Select	ENSP00000216373.5:p.Glu135=
ENST00000216373.9:c.405G>A	ENSP00000216373.5:p.Glu135=
ENST00000543680.5:c.405G>A	ENSP00000445328.1:p.Glu135=
ENST00000555666.1:n.584G>A
ENST00000556469.5:n.376G>A
NM_006939.2:c.405G>A	NP_008870.2:p.Glu135=
XM_005268021.1:c.225G>A	XP_005268078.1:p.Glu75=
XM_011537103.1:c.366G>A	XP_011535405.1:p.Glu122=
XM_011537104.1:c.405G>A	XP_011535406.1:p.Glu135=
XR_943842.1:n.1039+15924C>T
XR_943843.1:n.1039+15924C>T
NM_006939.3:c.405G>A	NP_008870.2:p.Glu135=
NM_006939.4:c.405G>A MANE Select	NP_008870.2:p.Glu135=