Canonical Allele Identifier: CA7177477
Community Standard Title: NM_006939.4(SOS2):c.680C>G (p.Ala227Gly)
Gene: SOS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50188531G>C , CM000676.2:g.50188531G>C GRCh38
NC_000014.8:g.50655249G>C , CM000676.1:g.50655249G>C GRCh37
NC_000014.7:g.49724999G>C NCBI36
NG_051073.1:g.48163C>G

Transcript Alleles

HGVS Amino-acid Change
NM_006939.4:c.680C>G MANE Select NP_008870.2:p.Ala227Gly
ENST00000216373.10:c.680C>G MANE Select ENSP00000216373.5:p.Ala227Gly
NM_006939.2:c.680C>G NP_008870.2:p.Ala227Gly
NM_006939.3:c.680C>G NP_008870.2:p.Ala227Gly
ENST00000216373.9:c.680C>G ENSP00000216373.5:p.Ala227Gly
ENST00000543680.5:c.680C>G ENSP00000445328.1:p.Ala227Gly
ENST00000556469.5:n.482-5925C>G
XM_005268021.1:c.500C>G XP_005268078.1:p.Ala167Gly
XM_011537103.1:c.641C>G XP_011535405.1:p.Ala214Gly
XM_011537104.1:c.680C>G XP_011535406.1:p.Ala227Gly
XR_943842.1:n.1039+4659G>C
XR_943843.1:n.1039+4659G>C