Canonical Allele Identifier: CA7176843
Gene: SOS2 HGNC NCBI

Linked Data

dbSNP Id: rs753815599
ExAC: 14:50597252 C / T
gnomAD v2: 14-50597252-C-T
gnomAD v3: 14-50130534-C-T
gnomAD v4: 14-50130534-C-T
MyVariant Identifiers: chr14:g.50597252C>T (hg19) chr14:g.50130534C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50130534C>T , CM000676.2:g.50130534C>T GRCh38
NC_000014.8:g.50597252C>T , CM000676.1:g.50597252C>T GRCh37
NC_000014.7:g.49667002C>T NCBI36
NG_051073.1:g.106160G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000216373.10:c.3304G>A MANE Select ENSP00000216373.5:p.Val1102Ile
ENST00000216373.9:c.3304G>A ENSP00000216373.5:p.Val1102Ile
ENST00000543680.5:c.3205G>A ENSP00000445328.1:p.Val1069Ile
NM_006939.2:c.3304G>A NP_008870.2:p.Val1102Ile
XM_005268021.1:c.3124G>A XP_005268078.1:p.Val1042Ile
XM_011537103.1:c.3265G>A XP_011535405.1:p.Val1089Ile
NM_006939.3:c.3304G>A NP_008870.2:p.Val1102Ile
NM_006939.4:c.3304G>A MANE Select NP_008870.2:p.Val1102Ile
Search 100 bp 5'
Search 100 bp 3'