Canonical Allele Identifier: CA7177189
Community Standard Title: NM_006939.4(SOS2):c.1961C>T (p.Thr654Ile)
Gene: SOS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50157095G>A , CM000676.2:g.50157095G>A GRCh38
NC_000014.8:g.50623813G>A , CM000676.1:g.50623813G>A GRCh37
NC_000014.7:g.49693563G>A NCBI36
NG_051073.1:g.79599C>T

Transcript Alleles

HGVS Amino-acid Change
NM_006939.4:c.1961C>T MANE Select NP_008870.2:p.Thr654Ile
ENST00000216373.10:c.1961C>T MANE Select ENSP00000216373.5:p.Thr654Ile
NM_006939.2:c.1961C>T NP_008870.2:p.Thr654Ile
NM_006939.3:c.1961C>T NP_008870.2:p.Thr654Ile
ENST00000216373.9:c.1961C>T ENSP00000216373.5:p.Thr654Ile
ENST00000543680.5:c.1862C>T ENSP00000445328.1:p.Thr621Ile
ENST00000555794.2:c.1075C>T
XM_005268021.1:c.1781C>T XP_005268078.1:p.Thr594Ile
XM_011537103.1:c.1922C>T XP_011535405.1:p.Thr641Ile
XM_011537104.1:c.1961C>T XP_011535406.1:p.Thr654Ile