Canonical Allele Identifier: CA389649704

Gene: SOS2

Linked Data

• ClinVar Variation Id: 1002804
• ClinVar RCV Id: RCV001299278
• dbSNP Id: rs1886426829
• gnomAD v4: 14-50199811-A-C
• MyVariant Identifiers: chr14:g.50666529A>C (hg19) ; chr14:g.50199811A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50199811A>C , CM000676.2:g.50199811A>C	GRCh38
NC_000014.8:g.50666529A>C , CM000676.1:g.50666529A>C	GRCh37
NC_000014.7:g.49736279A>C	NCBI36
NG_051073.1:g.36883T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.390T>G MANE Select	ENSP00000216373.5:p.Ile130Met
ENST00000216373.9:c.390T>G	ENSP00000216373.5:p.Ile130Met
ENST00000543680.5:c.390T>G	ENSP00000445328.1:p.Ile130Met
ENST00000555666.1:n.569T>G
ENST00000556469.5:n.361T>G
NM_006939.2:c.390T>G	NP_008870.2:p.Ile130Met
XM_005268021.1:c.210T>G	XP_005268078.1:p.Ile70Met
XM_011537103.1:c.351T>G	XP_011535405.1:p.Ile117Met
XM_011537104.1:c.390T>G	XP_011535406.1:p.Ile130Met
XR_943842.1:n.1039+15939A>C
XR_943843.1:n.1039+15939A>C
NM_006939.3:c.390T>G	NP_008870.2:p.Ile130Met
NM_006939.4:c.390T>G MANE Select	NP_008870.2:p.Ile130Met