Canonical Allele Identifier: CA7177472
Community Standard Title: NM_006939.4(SOS2):c.705T>G (p.Phe235Leu)
Gene: SOS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50188506A>C , CM000676.2:g.50188506A>C GRCh38
NC_000014.8:g.50655224A>C , CM000676.1:g.50655224A>C GRCh37
NC_000014.7:g.49724974A>C NCBI36
NG_051073.1:g.48188T>G

Transcript Alleles

HGVS Amino-acid Change
NM_006939.4:c.705T>G MANE Select NP_008870.2:p.Phe235Leu
ENST00000216373.10:c.705T>G MANE Select ENSP00000216373.5:p.Phe235Leu
NM_006939.2:c.705T>G NP_008870.2:p.Phe235Leu
NM_006939.3:c.705T>G NP_008870.2:p.Phe235Leu
ENST00000216373.9:c.705T>G ENSP00000216373.5:p.Phe235Leu
ENST00000543680.5:c.705T>G ENSP00000445328.1:p.Phe235Leu
ENST00000556469.5:n.482-5900T>G
XM_005268021.1:c.525T>G XP_005268078.1:p.Phe175Leu
XM_011537103.1:c.666T>G XP_011535405.1:p.Phe222Leu
XM_011537104.1:c.705T>G XP_011535406.1:p.Phe235Leu
XR_943842.1:n.1039+4634A>C
XR_943843.1:n.1039+4634A>C