Canonical Allele Identifier: CA389643875
Gene: SOS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50150144T>C , CM000676.2:g.50150144T>C GRCh38
NC_000014.8:g.50616862T>C , CM000676.1:g.50616862T>C GRCh37
NC_000014.7:g.49686612T>C NCBI36
NG_051073.1:g.86550A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216373.10:c.2248A>G MANE Select ENSP00000216373.5:p.Ile750Val
ENST00000216373.9:c.2248A>G ENSP00000216373.5:p.Ile750Val
ENST00000543680.5:c.2149A>G ENSP00000445328.1:p.Ile717Val
NM_006939.2:c.2248A>G NP_008870.2:p.Ile750Val
XM_005268021.1:c.2068A>G XP_005268078.1:p.Ile690Val
XM_011537103.1:c.2209A>G XP_011535405.1:p.Ile737Val
XM_011537104.1:c.2248A>G XP_011535406.1:p.Ile750Val
NM_006939.3:c.2248A>G NP_008870.2:p.Ile750Val
NM_006939.4:c.2248A>G MANE Select NP_008870.2:p.Ile750Val