Canonical Allele Identifier: CA486173094

Gene: SOS2

Linked Data

• ClinVar Variation Id: 1729667
• ClinVar RCV Id: RCV002325031
• gnomAD v4: 14-50130562-T-G
• MyVariant Identifiers: chr14:g.50597280T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50130562T>G , CM000676.2:g.50130562T>G	GRCh38
NC_000014.8:g.50597280T>G , CM000676.1:g.50597280T>G	GRCh37
NC_000014.7:g.49667030T>G	NCBI36
NG_051073.1:g.106132A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.3276A>C MANE Select	ENSP00000216373.5:p.Pro1092=
ENST00000216373.9:c.3276A>C	ENSP00000216373.5:p.Pro1092=
ENST00000543680.5:c.3177A>C	ENSP00000445328.1:p.Pro1059=
NM_006939.2:c.3276A>C	NP_008870.2:p.Pro1092=
XM_005268021.1:c.3096A>C	XP_005268078.1:p.Pro1032=
XM_011537103.1:c.3237A>C	XP_011535405.1:p.Pro1079=
NM_006939.3:c.3276A>C	NP_008870.2:p.Pro1092=
NM_006939.4:c.3276A>C MANE Select	NP_008870.2:p.Pro1092=