Canonical Allele Identifier: CA389640440

Gene: SOS2

Linked Data

• ClinVar Variation Id: 2899887
• ClinVar RCV Id: RCV003756343
• dbSNP Id: rs1883835710
• MyVariant Identifiers: chr14:g.50597270C>T (hg19) ; chr14:g.50130552C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50130552C>T , CM000676.2:g.50130552C>T	GRCh38
NC_000014.8:g.50597270C>T , CM000676.1:g.50597270C>T	GRCh37
NC_000014.7:g.49667020C>T	NCBI36
NG_051073.1:g.106142G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.3286G>A MANE Select	ENSP00000216373.5:p.Ala1096Thr
ENST00000216373.9:c.3286G>A	ENSP00000216373.5:p.Ala1096Thr
ENST00000543680.5:c.3187G>A	ENSP00000445328.1:p.Ala1063Thr
NM_006939.2:c.3286G>A	NP_008870.2:p.Ala1096Thr
XM_005268021.1:c.3106G>A	XP_005268078.1:p.Ala1036Thr
XM_011537103.1:c.3247G>A	XP_011535405.1:p.Ala1083Thr
NM_006939.3:c.3286G>A	NP_008870.2:p.Ala1096Thr
NM_006939.4:c.3286G>A MANE Select	NP_008870.2:p.Ala1096Thr