Canonical Allele Identifier: CA2624772457

Gene: SOS2

Linked Data

• gnomAD v4: 14-50180678-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50180679del , CM000676.2:g.50180679del	GRCh38
NC_000014.8:g.50647397del , CM000676.1:g.50647397del	GRCh37
NC_000014.7:g.49717147del	NCBI36
NG_051073.1:g.56015del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.862del MANE Select	ENSP00000216373.5:p.Gln288LysfsTer25
ENST00000216373.9:c.862del	ENSP00000216373.5:p.Gln288LysfsTer25
ENST00000543680.5:c.862del	ENSP00000445328.1:p.Gln288LysfsTer25
NM_006939.2:c.862del	NP_008870.2:p.Gln288LysfsTer25
XM_005268021.1:c.682del	XP_005268078.1:p.Gln228LysfsTer25
XM_011537103.1:c.823del	XP_011535405.1:p.Gln275LysfsTer25
XM_011537104.1:c.862del	XP_011535406.1:p.Gln288LysfsTer25
XR_943842.1:n.954-3108del
XR_943843.1:n.954-3108del
NM_006939.3:c.862del	NP_008870.2:p.Gln288LysfsTer25
NM_006939.4:c.862del MANE Select	NP_008870.2:p.Gln288LysfsTer25