Canonical Allele Identifier: CA7177117
Gene: SOS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1584871
ClinVar RCV Id: RCV002102909
dbSNP Id: rs780462582
ExAC: 14:50619771 AC / A
gnomAD v2: 14-50619771-AC-A
gnomAD v3: 14-50153053-AC-A
gnomAD v4: 14-50153053-AC-A
MyVariant Identifiers: chr14:g.50619772del (hg19) chr14:g.50153054del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50153055del , CM000676.2:g.50153055del GRCh38
NC_000014.8:g.50619773del , CM000676.1:g.50619773del GRCh37
NC_000014.7:g.49689523del NCBI36
NG_051073.1:g.83640del

Transcript Alleles

HGVS Amino-acid Change
ENST00000216373.10:c.2161+16del MANE Select ENSP00000216373.5:n.2161+16del
ENST00000216373.9:c.2161+16del ENSP00000216373.5:n.2161+16del
ENST00000543680.5:c.2062+16del ENSP00000445328.1:n.2062+16del
NM_006939.2:c.2161+16del NP_008870.2:n.2161+16del
XM_005268021.1:c.1981+16del XP_005268078.1:n.1981+16del
XM_011537103.1:c.2122+16del XP_011535405.1:n.2122+16del
XM_011537104.1:c.2161+16del XP_011535406.1:n.2161+16del
NM_006939.3:c.2161+16del NP_008870.2:n.2161+16del
NM_006939.4:c.2161+16del MANE Select NP_008870.2:n.2161+16del
Search 100 bp 5'
Search 100 bp 3'