Canonical Allele Identifier: CA389645293
Community Standard Title: NM_006939.4(SOS2):c.1648C>G (p.Arg550Gly)
Gene: SOS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50159635G>C , CM000676.2:g.50159635G>C GRCh38
NC_000014.8:g.50626353G>C , CM000676.1:g.50626353G>C GRCh37
NC_000014.7:g.49696103G>C NCBI36
NG_051073.1:g.77059C>G

Transcript Alleles

HGVS Amino-acid Change
NM_006939.4:c.1648C>G MANE Select NP_008870.2:p.Arg550Gly
ENST00000216373.10:c.1648C>G MANE Select ENSP00000216373.5:p.Arg550Gly
NM_006939.2:c.1648C>G NP_008870.2:p.Arg550Gly
NM_006939.3:c.1648C>G NP_008870.2:p.Arg550Gly
ENST00000216373.9:c.1648C>G ENSP00000216373.5:p.Arg550Gly
ENST00000543680.5:c.1549C>G ENSP00000445328.1:p.Arg517Gly
ENST00000555794.2:c.762C>G
XM_005268021.1:c.1468C>G XP_005268078.1:p.Arg490Gly
XM_011537103.1:c.1609C>G XP_011535405.1:p.Arg537Gly
XM_011537104.1:c.1648C>G XP_011535406.1:p.Arg550Gly