Canonical Allele Identifier: CA7176850
Gene: SOS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2051466
ClinVar RCV Id: RCV002927273 RCV003170571
dbSNP Id: rs769868981
ExAC: 14:50597293 G / A
gnomAD v2: 14-50597293-G-A
gnomAD v3: 14-50130575-G-A
gnomAD v4: 14-50130575-G-A
MyVariant Identifiers: chr14:g.50597293G>A (hg19) chr14:g.50130575G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50130575G>A , CM000676.2:g.50130575G>A GRCh38
NC_000014.8:g.50597293G>A , CM000676.1:g.50597293G>A GRCh37
NC_000014.7:g.49667043G>A NCBI36
NG_051073.1:g.106119C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000216373.10:c.3263C>T MANE Select ENSP00000216373.5:p.Thr1088Ile
ENST00000216373.9:c.3263C>T ENSP00000216373.5:p.Thr1088Ile
ENST00000543680.5:c.3164C>T ENSP00000445328.1:p.Thr1055Ile
NM_006939.2:c.3263C>T NP_008870.2:p.Thr1088Ile
XM_005268021.1:c.3083C>T XP_005268078.1:p.Thr1028Ile
XM_011537103.1:c.3224C>T XP_011535405.1:p.Thr1075Ile
NM_006939.3:c.3263C>T NP_008870.2:p.Thr1088Ile
NM_006939.4:c.3263C>T MANE Select NP_008870.2:p.Thr1088Ile
Search 100 bp 5'
Search 100 bp 3'