Canonical Allele Identifier: CA7177087
Gene: SOS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 423271
ClinVar RCV Id: RCV000486378
dbSNP Id: rs752871832
ExAC: 14:50616882 G / C
gnomAD v2: 14-50616882-G-C
MyVariant Identifiers: chr14:g.50616882G>C (hg19) chr14:g.50150164G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50150164G>C , CM000676.2:g.50150164G>C GRCh38
NC_000014.8:g.50616882G>C , CM000676.1:g.50616882G>C GRCh37
NC_000014.7:g.49686632G>C NCBI36
NG_051073.1:g.86530C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216373.10:c.2228C>G MANE Select ENSP00000216373.5:p.Ala743Gly
ENST00000216373.9:c.2228C>G ENSP00000216373.5:p.Ala743Gly
ENST00000543680.5:c.2129C>G ENSP00000445328.1:p.Ala710Gly
NM_006939.2:c.2228C>G NP_008870.2:p.Ala743Gly
XM_005268021.1:c.2048C>G XP_005268078.1:p.Ala683Gly
XM_011537103.1:c.2189C>G XP_011535405.1:p.Ala730Gly
XM_011537104.1:c.2228C>G XP_011535406.1:p.Ala743Gly
NM_006939.3:c.2228C>G NP_008870.2:p.Ala743Gly
NM_006939.4:c.2228C>G MANE Select NP_008870.2:p.Ala743Gly
Search 100 bp 5'
Search 100 bp 3'