Canonical Allele Identifier: CA7177427

Gene: SOS2

Linked Data

• dbSNP Id: rs763036058
• ExAC: 14:50647433 T / A
• gnomAD v2: 14-50647433-T-A
• gnomAD v3: 14-50180715-T-A
• gnomAD v4: 14-50180715-T-A
• MyVariant Identifiers: chr14:g.50647433T>A (hg19) ; chr14:g.50180715T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50180715T>A , CM000676.2:g.50180715T>A	GRCh38
NC_000014.8:g.50647433T>A , CM000676.1:g.50647433T>A	GRCh37
NC_000014.7:g.49717183T>A	NCBI36
NG_051073.1:g.55979A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.859-33A>T MANE Select	ENSP00000216373.5:n.859-33A>T
ENST00000216373.9:c.859-33A>T	ENSP00000216373.5:n.859-33A>T
ENST00000543680.5:c.859-33A>T	ENSP00000445328.1:n.859-33A>T
NM_006939.2:c.859-33A>T	NP_008870.2:n.859-33A>T
XM_005268021.1:c.679-33A>T	XP_005268078.1:n.679-33A>T
XM_011537103.1:c.820-33A>T	XP_011535405.1:n.820-33A>T
XM_011537104.1:c.859-33A>T	XP_011535406.1:n.859-33A>T
XR_943842.1:n.954-3072T>A
XR_943843.1:n.954-3072T>A
NM_006939.3:c.859-33A>T	NP_008870.2:n.859-33A>T
NM_006939.4:c.859-33A>T MANE Select	NP_008870.2:n.859-33A>T