Canonical Allele Identifier: CA389645369
Community Standard Title: NM_006939.4(SOS2):c.1610C>T (p.Ala537Val)
Gene: SOS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50159673G>A , CM000676.2:g.50159673G>A GRCh38
NC_000014.8:g.50626391G>A , CM000676.1:g.50626391G>A GRCh37
NC_000014.7:g.49696141G>A NCBI36
NG_051073.1:g.77021C>T

Transcript Alleles

HGVS Amino-acid Change
NM_006939.4:c.1610C>T MANE Select NP_008870.2:p.Ala537Val
ENST00000216373.10:c.1610C>T MANE Select ENSP00000216373.5:p.Ala537Val
NM_006939.2:c.1610C>T NP_008870.2:p.Ala537Val
NM_006939.3:c.1610C>T NP_008870.2:p.Ala537Val
ENST00000216373.9:c.1610C>T ENSP00000216373.5:p.Ala537Val
ENST00000543680.5:c.1511C>T ENSP00000445328.1:p.Ala504Val
ENST00000555794.2:c.724C>T
XM_005268021.1:c.1430C>T XP_005268078.1:p.Ala477Val
XM_011537103.1:c.1571C>T XP_011535405.1:p.Ala524Val
XM_011537104.1:c.1610C>T XP_011535406.1:p.Ala537Val