Canonical Allele Identifier: CA7177575
Community Standard Title: NM_006939.4(SOS2):c.230C>G (p.Thr77Ser)
Gene: SOS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50201068G>C , CM000676.2:g.50201068G>C GRCh38
NC_000014.8:g.50667786G>C , CM000676.1:g.50667786G>C GRCh37
NC_000014.7:g.49737536G>C NCBI36
NG_051073.1:g.35626C>G

Transcript Alleles

HGVS Amino-acid Change
NM_006939.4:c.230C>G MANE Select NP_008870.2:p.Thr77Ser
ENST00000216373.10:c.230C>G MANE Select ENSP00000216373.5:p.Thr77Ser
NM_006939.2:c.230C>G NP_008870.2:p.Thr77Ser
NM_006939.3:c.230C>G NP_008870.2:p.Thr77Ser
ENST00000216373.9:c.230C>G ENSP00000216373.5:p.Thr77Ser
ENST00000543680.5:c.230C>G ENSP00000445328.1:p.Thr77Ser
ENST00000555666.1:n.409C>G
ENST00000556452.1:c.*76C>G ENSP00000452553.1:n.*76C>G
ENST00000556469.5:n.201C>G
XM_005268021.1:c.50C>G XP_005268078.1:p.Thr17Ser
XM_011537103.1:c.191C>G XP_011535405.1:p.Thr64Ser
XM_011537104.1:c.230C>G XP_011535406.1:p.Thr77Ser
XR_943842.1:n.1039+17196G>C
XR_943843.1:n.1039+17196G>C