Canonical Allele Identifier: CA486173208

Gene: SOS2

Linked Data

• gnomAD v4: 14-50199835-C-T
• MyVariant Identifiers: chr14:g.50666553C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50199835C>T , CM000676.2:g.50199835C>T	GRCh38
NC_000014.8:g.50666553C>T , CM000676.1:g.50666553C>T	GRCh37
NC_000014.7:g.49736303C>T	NCBI36
NG_051073.1:g.36859G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.366G>A MANE Select	ENSP00000216373.5:p.Val122=
ENST00000216373.9:c.366G>A	ENSP00000216373.5:p.Val122=
ENST00000543680.5:c.366G>A	ENSP00000445328.1:p.Val122=
ENST00000555666.1:n.545G>A
ENST00000556469.5:n.337G>A
NM_006939.2:c.366G>A	NP_008870.2:p.Val122=
XM_005268021.1:c.186G>A	XP_005268078.1:p.Val62=
XM_011537103.1:c.327G>A	XP_011535405.1:p.Val109=
XM_011537104.1:c.366G>A	XP_011535406.1:p.Val122=
XR_943842.1:n.1039+15963C>T
XR_943843.1:n.1039+15963C>T
NM_006939.3:c.366G>A	NP_008870.2:p.Val122=
NM_006939.4:c.366G>A MANE Select	NP_008870.2:p.Val122=