Canonical Allele Identifier: CA389644519
Community Standard Title: NM_006939.4(SOS2):c.1976T>C (p.Leu659Ser)
Gene: SOS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50157080A>G , CM000676.2:g.50157080A>G GRCh38
NC_000014.8:g.50623798A>G , CM000676.1:g.50623798A>G GRCh37
NC_000014.7:g.49693548A>G NCBI36
NG_051073.1:g.79614T>C

Transcript Alleles

HGVS Amino-acid Change
NM_006939.4:c.1976T>C MANE Select NP_008870.2:p.Leu659Ser
ENST00000216373.10:c.1976T>C MANE Select ENSP00000216373.5:p.Leu659Ser
NM_006939.2:c.1976T>C NP_008870.2:p.Leu659Ser
NM_006939.3:c.1976T>C NP_008870.2:p.Leu659Ser
ENST00000216373.9:c.1976T>C ENSP00000216373.5:p.Leu659Ser
ENST00000543680.5:c.1877T>C ENSP00000445328.1:p.Leu626Ser
ENST00000555794.2:c.1090T>C
XM_005268021.1:c.1796T>C XP_005268078.1:p.Leu599Ser
XM_011537103.1:c.1937T>C XP_011535405.1:p.Leu646Ser
XM_011537104.1:c.1976T>C XP_011535406.1:p.Leu659Ser