Canonical Allele Identifier: CA7177368
Community Standard Title: NM_006939.4(SOS2):c.1001G>A (p.Arg334His)
Gene: SOS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50174521C>T , CM000676.2:g.50174521C>T GRCh38
NC_000014.8:g.50641239C>T , CM000676.1:g.50641239C>T GRCh37
NC_000014.7:g.49710989C>T NCBI36
NG_051073.1:g.62173G>A

Transcript Alleles

HGVS Amino-acid Change
NM_006939.4:c.1001G>A MANE Select NP_008870.2:p.Arg334His
ENST00000216373.10:c.1001G>A MANE Select ENSP00000216373.5:p.Arg334His
NM_006939.2:c.1001G>A NP_008870.2:p.Arg334His
NM_006939.3:c.1001G>A NP_008870.2:p.Arg334His
ENST00000216373.9:c.1001G>A ENSP00000216373.5:p.Arg334His
ENST00000543680.5:c.969+6051G>A ENSP00000445328.1:n.969+6051G>A
ENST00000555794.2:c.115G>A
XM_005268021.1:c.821G>A XP_005268078.1:p.Arg274His
XM_011537103.1:c.962G>A XP_011535405.1:p.Arg321His
XM_011537104.1:c.1001G>A XP_011535406.1:p.Arg334His