Canonical Allele Identifier: CA7177416

Gene: SOS2

Linked Data

• ClinVar Variation Id: 1394605
• ClinVar RCV Id: RCV001884851
• dbSNP Id: rs746412601
• ExAC: 14:50647330 T / C
• gnomAD v2: 14-50647330-T-C
• gnomAD v3: 14-50180612-T-C
• gnomAD v4: 14-50180612-T-C
• MyVariant Identifiers: chr14:g.50647330T>C (hg19) ; chr14:g.50180612T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50180612T>C , CM000676.2:g.50180612T>C	GRCh38
NC_000014.8:g.50647330T>C , CM000676.1:g.50647330T>C	GRCh37
NC_000014.7:g.49717080T>C	NCBI36
NG_051073.1:g.56082A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.929A>G MANE Select	ENSP00000216373.5:p.Asn310Ser
ENST00000216373.9:c.929A>G	ENSP00000216373.5:p.Asn310Ser
ENST00000543680.5:c.929A>G	ENSP00000445328.1:p.Asn310Ser
ENST00000555794.2:c.43A>G
NM_006939.2:c.929A>G	NP_008870.2:p.Asn310Ser
XM_005268021.1:c.749A>G	XP_005268078.1:p.Asn250Ser
XM_011537103.1:c.890A>G	XP_011535405.1:p.Asn297Ser
XM_011537104.1:c.929A>G	XP_011535406.1:p.Asn310Ser
XR_943842.1:n.954-3175T>C
XR_943843.1:n.954-3175T>C
NM_006939.3:c.929A>G	NP_008870.2:p.Asn310Ser
NM_006939.4:c.929A>G MANE Select	NP_008870.2:p.Asn310Ser