Canonical Allele Identifier: CA2624772733

Gene: SOS2

Linked Data

• gnomAD v4: 14-50180812-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50180812C>T , CM000676.2:g.50180812C>T	GRCh38
NC_000014.8:g.50647530C>T , CM000676.1:g.50647530C>T	GRCh37
NC_000014.7:g.49717280C>T	NCBI36
NG_051073.1:g.55882G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.859-130G>A MANE Select	ENSP00000216373.5:n.859-130G>A
ENST00000216373.9:c.859-130G>A	ENSP00000216373.5:n.859-130G>A
ENST00000543680.5:c.859-130G>A	ENSP00000445328.1:n.859-130G>A
NM_006939.2:c.859-130G>A	NP_008870.2:n.859-130G>A
XM_005268021.1:c.679-130G>A	XP_005268078.1:n.679-130G>A
XM_011537103.1:c.820-130G>A	XP_011535405.1:n.820-130G>A
XM_011537104.1:c.859-130G>A	XP_011535406.1:n.859-130G>A
XR_943842.1:n.954-2975C>T
XR_943843.1:n.954-2975C>T
NM_006939.3:c.859-130G>A	NP_008870.2:n.859-130G>A
NM_006939.4:c.859-130G>A MANE Select	NP_008870.2:n.859-130G>A