Canonical Allele Identifier: CA7177485

Gene: SOS2

Linked Data

• ClinVar Variation Id: 542398
• ClinVar RCV Id: RCV000652814 ; RCV001175494
• dbSNP Id: rs61755579
• ExAC: 14:50655307 C / A
• gnomAD v2: 14-50655307-C-A
• gnomAD v3: 14-50188589-C-A
• gnomAD v4: 14-50188589-C-A
• MyVariant Identifiers: chr14:g.50655307C>A (hg19) ; chr14:g.50188589C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50188589C>A , CM000676.2:g.50188589C>A	GRCh38
NC_000014.8:g.50655307C>A , CM000676.1:g.50655307C>A	GRCh37
NC_000014.7:g.49725057C>A	NCBI36
NG_051073.1:g.48105G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.622G>T MANE Select	ENSP00000216373.5:p.Ala208Ser
ENST00000216373.9:c.622G>T	ENSP00000216373.5:p.Ala208Ser
ENST00000543680.5:c.622G>T	ENSP00000445328.1:p.Ala208Ser
ENST00000556469.5:n.482-5983G>T
NM_006939.2:c.622G>T	NP_008870.2:p.Ala208Ser
XM_005268021.1:c.442G>T	XP_005268078.1:p.Ala148Ser
XM_011537103.1:c.583G>T	XP_011535405.1:p.Ala195Ser
XM_011537104.1:c.622G>T	XP_011535406.1:p.Ala208Ser
XR_943842.1:n.1039+4717C>A
XR_943843.1:n.1039+4717C>A
NM_006939.3:c.622G>T	NP_008870.2:p.Ala208Ser
NM_006939.4:c.622G>T MANE Select	NP_008870.2:p.Ala208Ser