Canonical Allele Identifier: CA389640508
Gene: SOS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2006451
ClinVar RCV Id: RCV002811759 RCV004064924
dbSNP Id: rs1883836729
gnomAD v4: 14-50130578-T-C
MyVariant Identifiers: chr14:g.50597296T>C (hg19) chr14:g.50130578T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50130578T>C , CM000676.2:g.50130578T>C GRCh38
NC_000014.8:g.50597296T>C , CM000676.1:g.50597296T>C GRCh37
NC_000014.7:g.49667046T>C NCBI36
NG_051073.1:g.106116A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216373.10:c.3260A>G MANE Select ENSP00000216373.5:p.Asn1087Ser
ENST00000216373.9:c.3260A>G ENSP00000216373.5:p.Asn1087Ser
ENST00000543680.5:c.3161A>G ENSP00000445328.1:p.Asn1054Ser
NM_006939.2:c.3260A>G NP_008870.2:p.Asn1087Ser
XM_005268021.1:c.3080A>G XP_005268078.1:p.Asn1027Ser
XM_011537103.1:c.3221A>G XP_011535405.1:p.Asn1074Ser
NM_006939.3:c.3260A>G NP_008870.2:p.Asn1087Ser
NM_006939.4:c.3260A>G MANE Select NP_008870.2:p.Asn1087Ser
Search 100 bp 5'
Search 100 bp 3'