Canonical Allele Identifier: CA389650372
Community Standard Title: NM_006939.4(SOS2):c.229A>T (p.Thr77Ser)
Gene: SOS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50201069T>A , CM000676.2:g.50201069T>A GRCh38
NC_000014.8:g.50667787T>A , CM000676.1:g.50667787T>A GRCh37
NC_000014.7:g.49737537T>A NCBI36
NG_051073.1:g.35625A>T

Transcript Alleles

HGVS Amino-acid Change
NM_006939.4:c.229A>T MANE Select NP_008870.2:p.Thr77Ser
ENST00000216373.10:c.229A>T MANE Select ENSP00000216373.5:p.Thr77Ser
NM_006939.2:c.229A>T NP_008870.2:p.Thr77Ser
NM_006939.3:c.229A>T NP_008870.2:p.Thr77Ser
ENST00000216373.9:c.229A>T ENSP00000216373.5:p.Thr77Ser
ENST00000543680.5:c.229A>T ENSP00000445328.1:p.Thr77Ser
ENST00000555666.1:n.408A>T
ENST00000556452.1:c.*75A>T ENSP00000452553.1:n.*75A>T
ENST00000556469.5:n.200A>T
XM_005268021.1:c.49A>T XP_005268078.1:p.Thr17Ser
XM_011537103.1:c.190A>T XP_011535405.1:p.Thr64Ser
XM_011537104.1:c.229A>T XP_011535406.1:p.Thr77Ser
XR_943842.1:n.1039+17197T>A
XR_943843.1:n.1039+17197T>A