Canonical Allele Identifier: CA389645635
Community Standard Title: NM_006939.4(SOS2):c.1499G>C (p.Cys500Ser)
Gene: SOS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50159784C>G , CM000676.2:g.50159784C>G GRCh38
NC_000014.8:g.50626502C>G , CM000676.1:g.50626502C>G GRCh37
NC_000014.7:g.49696252C>G NCBI36
NG_051073.1:g.76910G>C

Transcript Alleles

HGVS Amino-acid Change
NM_006939.4:c.1499G>C MANE Select NP_008870.2:p.Cys500Ser
ENST00000216373.10:c.1499G>C MANE Select ENSP00000216373.5:p.Cys500Ser
NM_006939.2:c.1499G>C NP_008870.2:p.Cys500Ser
NM_006939.3:c.1499G>C NP_008870.2:p.Cys500Ser
ENST00000216373.9:c.1499G>C ENSP00000216373.5:p.Cys500Ser
ENST00000543680.5:c.1400G>C ENSP00000445328.1:p.Cys467Ser
ENST00000555794.2:c.613G>C
XM_005268021.1:c.1319G>C XP_005268078.1:p.Cys440Ser
XM_011537103.1:c.1460G>C XP_011535405.1:p.Cys487Ser
XM_011537104.1:c.1499G>C XP_011535406.1:p.Cys500Ser