Canonical Allele Identifier: CA7177004

Gene: SOS2

Linked Data

• ClinVar Variation Id: 506639
• ClinVar RCV Id: RCV000610376 ; RCV000792762 ; RCV002431764
• dbSNP Id: rs561495878
• ExAC: 14:50611955 T / C
• gnomAD v2: 14-50611955-T-C
• gnomAD v3: 14-50145237-T-C
• gnomAD v4: 14-50145237-T-C
• MyVariant Identifiers: chr14:g.50611955T>C (hg19) ; chr14:g.50145237T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50145237T>C , CM000676.2:g.50145237T>C	GRCh38
NC_000014.8:g.50611955T>C , CM000676.1:g.50611955T>C	GRCh37
NC_000014.7:g.49681705T>C	NCBI36
NG_051073.1:g.91457A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.2600A>G MANE Select	ENSP00000216373.5:p.Asn867Ser
ENST00000216373.9:c.2600A>G	ENSP00000216373.5:p.Asn867Ser
ENST00000543680.5:c.2501A>G	ENSP00000445328.1:p.Asn834Ser
NM_006939.2:c.2600A>G	NP_008870.2:p.Asn867Ser
XM_005268021.1:c.2420A>G	XP_005268078.1:p.Asn807Ser
XM_011537103.1:c.2561A>G	XP_011535405.1:p.Asn854Ser
XM_011537104.1:c.2600A>G	XP_011535406.1:p.Asn867Ser
NM_006939.3:c.2600A>G	NP_008870.2:p.Asn867Ser
NM_006939.4:c.2600A>G MANE Select	NP_008870.2:p.Asn867Ser