Canonical Allele Identifier: CA7177383
Gene: SOS2 HGNC NCBI

Linked Data

dbSNP Id: rs139223756
ExAC: 14:50647249 A / AT
gnomAD v2: 14-50647249-A-AT
gnomAD v4: 14-50180531-A-AT
MyVariant Identifiers: chr14:g.50647251_50647252insT (hg19) chr14:g.50647250_50647251insT (hg19) chr14:g.50647249_50647250insT (hg19) chr14:g.50180531_50180532insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50180533dup , CM000676.2:g.50180533dup GRCh38
NC_000014.8:g.50647251dup , CM000676.1:g.50647251dup GRCh37
NC_000014.7:g.49717001dup NCBI36
NG_051073.1:g.56162dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000216373.10:c.969+40dup MANE Select ENSP00000216373.5:n.969+40dup
ENST00000216373.9:c.969+40dup ENSP00000216373.5:n.969+40dup
ENST00000543680.5:c.969+40dup ENSP00000445328.1:n.969+40dup
ENST00000555794.2:c.83+40dup
NM_006939.2:c.969+40dup NP_008870.2:n.969+40dup
XM_005268021.1:c.789+40dup XP_005268078.1:n.789+40dup
XM_011537103.1:c.930+40dup XP_011535405.1:n.930+40dup
XM_011537104.1:c.969+40dup XP_011535406.1:n.969+40dup
XR_943842.1:n.954-3254dup
XR_943843.1:n.954-3254dup
NM_006939.3:c.969+40dup NP_008870.2:n.969+40dup
NM_006939.4:c.969+40dup MANE Select NP_008870.2:n.969+40dup
Search 100 bp 5'
Search 100 bp 3'