Canonical Allele Identifier: CA389649762
Community Standard Title: NM_006939.4(SOS2):c.364G>A (p.Val122Met)
Gene: SOS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50199837C>T , CM000676.2:g.50199837C>T GRCh38
NC_000014.8:g.50666555C>T , CM000676.1:g.50666555C>T GRCh37
NC_000014.7:g.49736305C>T NCBI36
NG_051073.1:g.36857G>A

Transcript Alleles

HGVS Amino-acid Change
NM_006939.4:c.364G>A MANE Select NP_008870.2:p.Val122Met
ENST00000216373.10:c.364G>A MANE Select ENSP00000216373.5:p.Val122Met
NM_006939.2:c.364G>A NP_008870.2:p.Val122Met
NM_006939.3:c.364G>A NP_008870.2:p.Val122Met
ENST00000216373.9:c.364G>A ENSP00000216373.5:p.Val122Met
ENST00000543680.5:c.364G>A ENSP00000445328.1:p.Val122Met
ENST00000555666.1:n.543G>A
ENST00000556469.5:n.335G>A
XM_005268021.1:c.184G>A XP_005268078.1:p.Val62Met
XM_011537103.1:c.325G>A XP_011535405.1:p.Val109Met
XM_011537104.1:c.364G>A XP_011535406.1:p.Val122Met
XR_943842.1:n.1039+15965C>T
XR_943843.1:n.1039+15965C>T