Canonical Allele Identifier: CA389645638
Community Standard Title: NM_006939.4(SOS2):c.1498T>A (p.Cys500Ser)
Gene: SOS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50159785A>T , CM000676.2:g.50159785A>T GRCh38
NC_000014.8:g.50626503A>T , CM000676.1:g.50626503A>T GRCh37
NC_000014.7:g.49696253A>T NCBI36
NG_051073.1:g.76909T>A

Transcript Alleles

HGVS Amino-acid Change
NM_006939.4:c.1498T>A MANE Select NP_008870.2:p.Cys500Ser
ENST00000216373.10:c.1498T>A MANE Select ENSP00000216373.5:p.Cys500Ser
NM_006939.2:c.1498T>A NP_008870.2:p.Cys500Ser
NM_006939.3:c.1498T>A NP_008870.2:p.Cys500Ser
ENST00000216373.9:c.1498T>A ENSP00000216373.5:p.Cys500Ser
ENST00000543680.5:c.1399T>A ENSP00000445328.1:p.Cys467Ser
ENST00000555794.2:c.612T>A
XM_005268021.1:c.1318T>A XP_005268078.1:p.Cys440Ser
XM_011537103.1:c.1459T>A XP_011535405.1:p.Cys487Ser
XM_011537104.1:c.1498T>A XP_011535406.1:p.Cys500Ser