Canonical Allele Identifier: CA2624773360

Gene: SOS2

Linked Data

• gnomAD v4: 14-50199833-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50199835del , CM000676.2:g.50199835del	GRCh38
NC_000014.8:g.50666553del , CM000676.1:g.50666553del	GRCh37
NC_000014.7:g.49736303del	NCBI36
NG_051073.1:g.36860del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.367del MANE Select	ENSP00000216373.5:p.Asp123ThrfsTer12
ENST00000216373.9:c.367del	ENSP00000216373.5:p.Asp123ThrfsTer12
ENST00000543680.5:c.367del	ENSP00000445328.1:p.Asp123ThrfsTer12
ENST00000555666.1:n.546del
ENST00000556469.5:n.338del
NM_006939.2:c.367del	NP_008870.2:p.Asp123ThrfsTer12
XM_005268021.1:c.187del	XP_005268078.1:p.Asp63ThrfsTer12
XM_011537103.1:c.328del	XP_011535405.1:p.Asp110ThrfsTer12
XM_011537104.1:c.367del	XP_011535406.1:p.Asp123ThrfsTer12
XR_943842.1:n.1039+15963del
XR_943843.1:n.1039+15963del
NM_006939.3:c.367del	NP_008870.2:p.Asp123ThrfsTer12
NM_006939.4:c.367del MANE Select	NP_008870.2:p.Asp123ThrfsTer12