Canonical Allele Identifier: CA260714055
Gene: SOS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3013372
ClinVar RCV Id: RCV003870467
dbSNP Id: rs150752193
gnomAD v4: 14-50130588-T-G
MyVariant Identifiers: chr14:g.50597306T>G (hg19) chr14:g.50130588T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50130588T>G , CM000676.2:g.50130588T>G GRCh38
NC_000014.8:g.50597306T>G , CM000676.1:g.50597306T>G GRCh37
NC_000014.7:g.49667056T>G NCBI36
NG_051073.1:g.106106A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000216373.10:c.3250A>C MANE Select ENSP00000216373.5:p.Thr1084Pro
ENST00000216373.9:c.3250A>C ENSP00000216373.5:p.Thr1084Pro
ENST00000543680.5:c.3151A>C ENSP00000445328.1:p.Thr1051Pro
NM_006939.2:c.3250A>C NP_008870.2:p.Thr1084Pro
XM_005268021.1:c.3070A>C XP_005268078.1:p.Thr1024Pro
XM_011537103.1:c.3211A>C XP_011535405.1:p.Thr1071Pro
NM_006939.3:c.3250A>C NP_008870.2:p.Thr1084Pro
NM_006939.4:c.3250A>C MANE Select NP_008870.2:p.Thr1084Pro
Search 100 bp 5'
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