Canonical Allele Identifier: CA7176844
Gene: SOS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2046673
ClinVar RCV Id: RCV002913801 RCV004066192
dbSNP Id: rs373071240
ExAC: 14:50597261 C / G
gnomAD v2: 14-50597261-C-G
gnomAD v3: 14-50130543-C-G
gnomAD v4: 14-50130543-C-G
MyVariant Identifiers: chr14:g.50597261C>G (hg19) chr14:g.50130543C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50130543C>G , CM000676.2:g.50130543C>G GRCh38
NC_000014.8:g.50597261C>G , CM000676.1:g.50597261C>G GRCh37
NC_000014.7:g.49667011C>G NCBI36
NG_051073.1:g.106151G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000216373.10:c.3295G>C MANE Select ENSP00000216373.5:p.Asp1099His
ENST00000216373.9:c.3295G>C ENSP00000216373.5:p.Asp1099His
ENST00000543680.5:c.3196G>C ENSP00000445328.1:p.Asp1066His
NM_006939.2:c.3295G>C NP_008870.2:p.Asp1099His
XM_005268021.1:c.3115G>C XP_005268078.1:p.Asp1039His
XM_011537103.1:c.3256G>C XP_011535405.1:p.Asp1086His
NM_006939.3:c.3295G>C NP_008870.2:p.Asp1099His
NM_006939.4:c.3295G>C MANE Select NP_008870.2:p.Asp1099His
Search 100 bp 5'
Search 100 bp 3'