Canonical Allele Identifier: CA7176841
Gene: SOS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1348897
ClinVar RCV Id: RCV002046661 RCV002324226
dbSNP Id: rs756103351
ExAC: 14:50597221 C / T
gnomAD v2: 14-50597221-C-T
gnomAD v3: 14-50130503-C-T
gnomAD v4: 14-50130503-C-T
MyVariant Identifiers: chr14:g.50597221C>T (hg19) chr14:g.50130503C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50130503C>T , CM000676.2:g.50130503C>T GRCh38
NC_000014.8:g.50597221C>T , CM000676.1:g.50597221C>T GRCh37
NC_000014.7:g.49666971C>T NCBI36
NG_051073.1:g.106191G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000216373.10:c.3335G>A MANE Select ENSP00000216373.5:p.Cys1112Tyr
ENST00000216373.9:c.3335G>A ENSP00000216373.5:p.Cys1112Tyr
ENST00000543680.5:c.3236G>A ENSP00000445328.1:p.Cys1079Tyr
NM_006939.2:c.3335G>A NP_008870.2:p.Cys1112Tyr
XM_005268021.1:c.3155G>A XP_005268078.1:p.Cys1052Tyr
XM_011537103.1:c.3296G>A XP_011535405.1:p.Cys1099Tyr
NM_006939.3:c.3335G>A NP_008870.2:p.Cys1112Tyr
NM_006939.4:c.3335G>A MANE Select NP_008870.2:p.Cys1112Tyr
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Search 100 bp 3'