Canonical Allele Identifier: CA486173170
Gene: SOS2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.50666493T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50199775T>C , CM000676.2:g.50199775T>C GRCh38
NC_000014.8:g.50666493T>C , CM000676.1:g.50666493T>C GRCh37
NC_000014.7:g.49736243T>C NCBI36
NG_051073.1:g.36919A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216373.10:c.426A>G MANE Select ENSP00000216373.5:p.Leu142=
ENST00000216373.9:c.426A>G ENSP00000216373.5:p.Leu142=
ENST00000543680.5:c.426A>G ENSP00000445328.1:p.Leu142=
ENST00000555666.1:n.605A>G
ENST00000556469.5:n.397A>G
NM_006939.2:c.426A>G NP_008870.2:p.Leu142=
XM_005268021.1:c.246A>G XP_005268078.1:p.Leu82=
XM_011537103.1:c.387A>G XP_011535405.1:p.Leu129=
XM_011537104.1:c.426A>G XP_011535406.1:p.Leu142=
XR_943842.1:n.1039+15903T>C
XR_943843.1:n.1039+15903T>C
NM_006939.3:c.426A>G NP_008870.2:p.Leu142=
NM_006939.4:c.426A>G MANE Select NP_008870.2:p.Leu142=