Canonical Allele Identifier: CA389649620

Gene: SOS2

Linked Data

• MyVariant Identifiers: chr14:g.50666491T>C (hg19) ; chr14:g.50199773T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50199773T>C , CM000676.2:g.50199773T>C	GRCh38
NC_000014.8:g.50666491T>C , CM000676.1:g.50666491T>C	GRCh37
NC_000014.7:g.49736241T>C	NCBI36
NG_051073.1:g.36921A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.428A>G MANE Select	ENSP00000216373.5:p.Lys143Arg
ENST00000216373.9:c.428A>G	ENSP00000216373.5:p.Lys143Arg
ENST00000543680.5:c.428A>G	ENSP00000445328.1:p.Lys143Arg
ENST00000555666.1:n.607A>G
ENST00000556469.5:n.399A>G
NM_006939.2:c.428A>G	NP_008870.2:p.Lys143Arg
XM_005268021.1:c.248A>G	XP_005268078.1:p.Lys83Arg
XM_011537103.1:c.389A>G	XP_011535405.1:p.Lys130Arg
XM_011537104.1:c.428A>G	XP_011535406.1:p.Lys143Arg
XR_943842.1:n.1039+15901T>C
XR_943843.1:n.1039+15901T>C
NM_006939.3:c.428A>G	NP_008870.2:p.Lys143Arg
NM_006939.4:c.428A>G MANE Select	NP_008870.2:p.Lys143Arg