Canonical Allele Identifier: CA389640404
Gene: SOS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1677312
ClinVar RCV Id: RCV002223346
dbSNP Id: rs1317870927
gnomAD v2: 14-50597253-A-C
gnomAD v4: 14-50130535-A-C
MyVariant Identifiers: chr14:g.50597253A>C (hg19) chr14:g.50130535A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50130535A>C , CM000676.2:g.50130535A>C GRCh38
NC_000014.8:g.50597253A>C , CM000676.1:g.50597253A>C GRCh37
NC_000014.7:g.49667003A>C NCBI36
NG_051073.1:g.106159T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216373.10:c.3303T>G MANE Select ENSP00000216373.5:p.Ser1101Arg
ENST00000216373.9:c.3303T>G ENSP00000216373.5:p.Ser1101Arg
ENST00000543680.5:c.3204T>G ENSP00000445328.1:p.Ser1068Arg
NM_006939.2:c.3303T>G NP_008870.2:p.Ser1101Arg
XM_005268021.1:c.3123T>G XP_005268078.1:p.Ser1041Arg
XM_011537103.1:c.3264T>G XP_011535405.1:p.Ser1088Arg
NM_006939.3:c.3303T>G NP_008870.2:p.Ser1101Arg
NM_006939.4:c.3303T>G MANE Select NP_008870.2:p.Ser1101Arg
Search 100 bp 5'
Search 100 bp 3'