Canonical Allele Identifier: CA7177533
Gene: SOS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2901447
ClinVar RCV Id: RCV003756363 RCV004374168
dbSNP Id: rs764636629
ExAC: 14:50666544 A / G
gnomAD v2: 14-50666544-A-G
gnomAD v3: 14-50199826-A-G
gnomAD v4: 14-50199826-A-G
MyVariant Identifiers: chr14:g.50666544A>G (hg19) chr14:g.50199826A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50199826A>G , CM000676.2:g.50199826A>G GRCh38
NC_000014.8:g.50666544A>G , CM000676.1:g.50666544A>G GRCh37
NC_000014.7:g.49736294A>G NCBI36
NG_051073.1:g.36868T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000216373.10:c.375T>C MANE Select ENSP00000216373.5:p.His125=
ENST00000216373.9:c.375T>C ENSP00000216373.5:p.His125=
ENST00000543680.5:c.375T>C ENSP00000445328.1:p.His125=
ENST00000555666.1:n.554T>C
ENST00000556469.5:n.346T>C
NM_006939.2:c.375T>C NP_008870.2:p.His125=
XM_005268021.1:c.195T>C XP_005268078.1:p.His65=
XM_011537103.1:c.336T>C XP_011535405.1:p.His112=
XM_011537104.1:c.375T>C XP_011535406.1:p.His125=
XR_943842.1:n.1039+15954A>G
XR_943843.1:n.1039+15954A>G
NM_006939.3:c.375T>C NP_008870.2:p.His125=
NM_006939.4:c.375T>C MANE Select NP_008870.2:p.His125=
Search 100 bp 5'
Search 100 bp 3'