Canonical Allele Identifier: CA389649617

Gene: SOS2

Linked Data

• MyVariant Identifiers: chr14:g.50666490T>A (hg19) ; chr14:g.50199772T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50199772T>A , CM000676.2:g.50199772T>A	GRCh38
NC_000014.8:g.50666490T>A , CM000676.1:g.50666490T>A	GRCh37
NC_000014.7:g.49736240T>A	NCBI36
NG_051073.1:g.36922A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.429A>T MANE Select	ENSP00000216373.5:p.Lys143Asn
ENST00000216373.9:c.429A>T	ENSP00000216373.5:p.Lys143Asn
ENST00000543680.5:c.429A>T	ENSP00000445328.1:p.Lys143Asn
ENST00000555666.1:n.608A>T
ENST00000556469.5:n.400A>T
NM_006939.2:c.429A>T	NP_008870.2:p.Lys143Asn
XM_005268021.1:c.249A>T	XP_005268078.1:p.Lys83Asn
XM_011537103.1:c.390A>T	XP_011535405.1:p.Lys130Asn
XM_011537104.1:c.429A>T	XP_011535406.1:p.Lys143Asn
XR_943842.1:n.1039+15900T>A
XR_943843.1:n.1039+15900T>A
NM_006939.3:c.429A>T	NP_008870.2:p.Lys143Asn
NM_006939.4:c.429A>T MANE Select	NP_008870.2:p.Lys143Asn