Canonical Allele Identifier: CA260731650
Gene: SOS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 488173
ClinVar RCV Id: RCV000578097 RCV003900291
dbSNP Id: rs201629454
gnomAD v2: 14-50619778-T-C
gnomAD v3: 14-50153060-T-C
gnomAD v4: 14-50153060-T-C
MyVariant Identifiers: chr14:g.50619778T>C (hg19) chr14:g.50153060T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50153060T>C , CM000676.2:g.50153060T>C GRCh38
NC_000014.8:g.50619778T>C , CM000676.1:g.50619778T>C GRCh37
NC_000014.7:g.49689528T>C NCBI36
NG_051073.1:g.83634A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216373.10:c.2161+10A>G MANE Select ENSP00000216373.5:n.2161+10A>G
ENST00000216373.9:c.2161+10A>G ENSP00000216373.5:n.2161+10A>G
ENST00000543680.5:c.2062+10A>G ENSP00000445328.1:n.2062+10A>G
NM_006939.2:c.2161+10A>G NP_008870.2:n.2161+10A>G
XM_005268021.1:c.1981+10A>G XP_005268078.1:n.1981+10A>G
XM_011537103.1:c.2122+10A>G XP_011535405.1:n.2122+10A>G
XM_011537104.1:c.2161+10A>G XP_011535406.1:n.2161+10A>G
NM_006939.3:c.2161+10A>G NP_008870.2:n.2161+10A>G
NM_006939.4:c.2161+10A>G MANE Select NP_008870.2:n.2161+10A>G
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