Canonical Allele Identifier: CA260714002
Gene: SOS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 719880
ClinVar RCV Id: RCV002065591 RCV002444983
dbSNP Id: rs780697283
gnomAD v2: 14-50597277-T-G
gnomAD v3: 14-50130559-T-G
gnomAD v4: 14-50130559-T-G
MyVariant Identifiers: chr14:g.50597277T>G (hg19) chr14:g.50130559T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50130559T>G , CM000676.2:g.50130559T>G GRCh38
NC_000014.8:g.50597277T>G , CM000676.1:g.50597277T>G GRCh37
NC_000014.7:g.49667027T>G NCBI36
NG_051073.1:g.106135A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000216373.10:c.3279A>C MANE Select ENSP00000216373.5:p.Pro1093=
ENST00000216373.9:c.3279A>C ENSP00000216373.5:p.Pro1093=
ENST00000543680.5:c.3180A>C ENSP00000445328.1:p.Pro1060=
NM_006939.2:c.3279A>C NP_008870.2:p.Pro1093=
XM_005268021.1:c.3099A>C XP_005268078.1:p.Pro1033=
XM_011537103.1:c.3240A>C XP_011535405.1:p.Pro1080=
NM_006939.3:c.3279A>C NP_008870.2:p.Pro1093=
NM_006939.4:c.3279A>C MANE Select NP_008870.2:p.Pro1093=
Search 100 bp 5'
Search 100 bp 3'