Canonical Allele Identifier: CA486173155

Gene: SOS2

Linked Data

• ClinVar Variation Id: 1078829
• ClinVar RCV Id: RCV001393866
• dbSNP Id: rs2139778987
• MyVariant Identifiers: chr14:g.50666466A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50199748A>G , CM000676.2:g.50199748A>G	GRCh38
NC_000014.8:g.50666466A>G , CM000676.1:g.50666466A>G	GRCh37
NC_000014.7:g.49736216A>G	NCBI36
NG_051073.1:g.36946T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.453T>C MANE Select	ENSP00000216373.5:p.Asn151=
ENST00000216373.9:c.453T>C	ENSP00000216373.5:p.Asn151=
ENST00000543680.5:c.453T>C	ENSP00000445328.1:p.Asn151=
ENST00000555666.1:n.632T>C
ENST00000556469.5:n.424T>C
NM_006939.2:c.453T>C	NP_008870.2:p.Asn151=
XM_005268021.1:c.273T>C	XP_005268078.1:p.Asn91=
XM_011537103.1:c.414T>C	XP_011535405.1:p.Asn138=
XM_011537104.1:c.453T>C	XP_011535406.1:p.Asn151=
XR_943842.1:n.1039+15876A>G
XR_943843.1:n.1039+15876A>G
NM_006939.3:c.453T>C	NP_008870.2:p.Asn151=
NM_006939.4:c.453T>C MANE Select	NP_008870.2:p.Asn151=