Canonical Allele Identifier: CA7177280
Community Standard Title: NM_006939.4(SOS2):c.1417C>T (p.His473Tyr)
Gene: SOS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50159866G>A , CM000676.2:g.50159866G>A GRCh38
NC_000014.8:g.50626584G>A , CM000676.1:g.50626584G>A GRCh37
NC_000014.7:g.49696334G>A NCBI36
NG_051073.1:g.76828C>T

Transcript Alleles

HGVS Amino-acid Change
NM_006939.4:c.1417C>T MANE Select NP_008870.2:p.His473Tyr
ENST00000216373.10:c.1417C>T MANE Select ENSP00000216373.5:p.His473Tyr
NM_006939.2:c.1417C>T NP_008870.2:p.His473Tyr
NM_006939.3:c.1417C>T NP_008870.2:p.His473Tyr
ENST00000216373.9:c.1417C>T ENSP00000216373.5:p.His473Tyr
ENST00000543680.5:c.1318C>T ENSP00000445328.1:p.His440Tyr
ENST00000555794.2:c.531C>T
XM_005268021.1:c.1237C>T XP_005268078.1:p.His413Tyr
XM_011537103.1:c.1378C>T XP_011535405.1:p.His460Tyr
XM_011537104.1:c.1417C>T XP_011535406.1:p.His473Tyr