Canonical Allele Identifier: CA2624771199

Gene: SOS2

Linked Data

• gnomAD v4: 14-50152946-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50152949dup , CM000676.2:g.50152949dup	GRCh38
NC_000014.8:g.50619667dup , CM000676.1:g.50619667dup	GRCh37
NC_000014.7:g.49689417dup	NCBI36
NG_051073.1:g.83747dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.2161+123dup MANE Select	ENSP00000216373.5:n.2161+123dup
ENST00000216373.9:c.2161+123dup	ENSP00000216373.5:n.2161+123dup
ENST00000543680.5:c.2062+123dup	ENSP00000445328.1:n.2062+123dup
NM_006939.2:c.2161+123dup	NP_008870.2:n.2161+123dup
XM_005268021.1:c.1981+123dup	XP_005268078.1:n.1981+123dup
XM_011537103.1:c.2122+123dup	XP_011535405.1:n.2122+123dup
XM_011537104.1:c.2161+123dup	XP_011535406.1:n.2161+123dup
NM_006939.3:c.2161+123dup	NP_008870.2:n.2161+123dup
NM_006939.4:c.2161+123dup MANE Select	NP_008870.2:n.2161+123dup