Canonical Allele Identifier: CA7177520
Community Standard Title: NM_006939.4(SOS2):c.503C>T (p.Ala168Val)
Gene: SOS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50199698G>A , CM000676.2:g.50199698G>A GRCh38
NC_000014.8:g.50666416G>A , CM000676.1:g.50666416G>A GRCh37
NC_000014.7:g.49736166G>A NCBI36
NG_051073.1:g.36996C>T

Transcript Alleles

HGVS Amino-acid Change
NM_006939.4:c.503C>T MANE Select NP_008870.2:p.Ala168Val
ENST00000216373.10:c.503C>T MANE Select ENSP00000216373.5:p.Ala168Val
NM_006939.2:c.503C>T NP_008870.2:p.Ala168Val
NM_006939.3:c.503C>T NP_008870.2:p.Ala168Val
ENST00000216373.9:c.503C>T ENSP00000216373.5:p.Ala168Val
ENST00000543680.5:c.503C>T ENSP00000445328.1:p.Ala168Val
ENST00000556469.5:n.474C>T
XM_005268021.1:c.323C>T XP_005268078.1:p.Ala108Val
XM_011537103.1:c.464C>T XP_011535405.1:p.Ala155Val
XM_011537104.1:c.503C>T XP_011535406.1:p.Ala168Val
XR_943842.1:n.1039+15826G>A
XR_943843.1:n.1039+15826G>A