Canonical Allele Identifier: CA7177290
Gene: SOS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 389391
dbSNP Id: rs35530861

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50159939C>T , CM000676.2:g.50159939C>T GRCh38
NC_000014.8:g.50626657C>T , CM000676.1:g.50626657C>T GRCh37
NC_000014.7:g.49696407C>T NCBI36
NG_051073.1:g.76755G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000216373.10:c.1344G>A MANE Select ENSP00000216373.5:p.Leu448=
ENST00000216373.9:c.1344G>A ENSP00000216373.5:p.Leu448=
ENST00000543680.5:c.1245G>A ENSP00000445328.1:p.Leu415=
ENST00000555794.2:c.458G>A
NM_006939.2:c.1344G>A NP_008870.2:p.Leu448=
XM_005268021.1:c.1164G>A XP_005268078.1:p.Leu388=
XM_011537103.1:c.1305G>A XP_011535405.1:p.Leu435=
XM_011537104.1:c.1344G>A XP_011535406.1:p.Leu448=
NM_006939.3:c.1344G>A NP_008870.2:p.Leu448=
NM_006939.4:c.1344G>A MANE Select NP_008870.2:p.Leu448=