Canonical Allele Identifier: CA389647007

Gene: SOS2

Linked Data

• gnomAD v4: 14-50180622-C-A
• MyVariant Identifiers: chr14:g.50647340C>A (hg19) ; chr14:g.50180622C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50180622C>A , CM000676.2:g.50180622C>A	GRCh38
NC_000014.8:g.50647340C>A , CM000676.1:g.50647340C>A	GRCh37
NC_000014.7:g.49717090C>A	NCBI36
NG_051073.1:g.56072G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.919G>T MANE Select	ENSP00000216373.5:p.Glu307Ter
ENST00000216373.9:c.919G>T	ENSP00000216373.5:p.Glu307Ter
ENST00000543680.5:c.919G>T	ENSP00000445328.1:p.Glu307Ter
ENST00000555794.2:c.33G>T
NM_006939.2:c.919G>T	NP_008870.2:p.Glu307Ter
XM_005268021.1:c.739G>T	XP_005268078.1:p.Glu247Ter
XM_011537103.1:c.880G>T	XP_011535405.1:p.Glu294Ter
XM_011537104.1:c.919G>T	XP_011535406.1:p.Glu307Ter
XR_943842.1:n.954-3165C>A
XR_943843.1:n.954-3165C>A
NM_006939.3:c.919G>T	NP_008870.2:p.Glu307Ter
NM_006939.4:c.919G>T MANE Select	NP_008870.2:p.Glu307Ter