Canonical Allele Identifier: CA613848287
Gene: SOS2 HGNC NCBI

Linked Data

dbSNP Id: rs1335747792
gnomAD v2: 14-50619762-TTCAA-T
gnomAD v3: 14-50153044-TTCAA-T
gnomAD v4: 14-50153044-TTCAA-T
MyVariant Identifiers: chr14:g.50619763_50619766del (hg19) chr14:g.50153045_50153048del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50153049_50153052del , CM000676.2:g.50153049_50153052del GRCh38
NC_000014.8:g.50619767_50619770del , CM000676.1:g.50619767_50619770del GRCh37
NC_000014.7:g.49689517_49689520del NCBI36
NG_051073.1:g.83646_83649del

Transcript Alleles

HGVS Amino-acid change
ENST00000216373.10:c.2161+22_2161+25del MANE Select ENSP00000216373.5:n.2161+22_2161+25del
ENST00000216373.9:c.2161+22_2161+25del ENSP00000216373.5:n.2161+22_2161+25del
ENST00000543680.5:c.2062+22_2062+25del ENSP00000445328.1:n.2062+22_2062+25del
NM_006939.2:c.2161+22_2161+25del NP_008870.2:n.2161+22_2161+25del
XM_005268021.1:c.1981+22_1981+25del XP_005268078.1:n.1981+22_1981+25del
XM_011537103.1:c.2122+22_2122+25del XP_011535405.1:n.2122+22_2122+25del
XM_011537104.1:c.2161+22_2161+25del XP_011535406.1:n.2161+22_2161+25del
NM_006939.3:c.2161+22_2161+25del NP_008870.2:n.2161+22_2161+25del
NM_006939.4:c.2161+22_2161+25del MANE Select NP_008870.2:n.2161+22_2161+25del
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