Canonical Allele Identifier: CA486173175
Gene: SOS2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.50666502A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50199784A>C , CM000676.2:g.50199784A>C GRCh38
NC_000014.8:g.50666502A>C , CM000676.1:g.50666502A>C GRCh37
NC_000014.7:g.49736252A>C NCBI36
NG_051073.1:g.36910T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216373.10:c.417T>G MANE Select ENSP00000216373.5:p.Ala139=
ENST00000216373.9:c.417T>G ENSP00000216373.5:p.Ala139=
ENST00000543680.5:c.417T>G ENSP00000445328.1:p.Ala139=
ENST00000555666.1:n.596T>G
ENST00000556469.5:n.388T>G
NM_006939.2:c.417T>G NP_008870.2:p.Ala139=
XM_005268021.1:c.237T>G XP_005268078.1:p.Ala79=
XM_011537103.1:c.378T>G XP_011535405.1:p.Ala126=
XM_011537104.1:c.417T>G XP_011535406.1:p.Ala139=
XR_943842.1:n.1039+15912A>C
XR_943843.1:n.1039+15912A>C
NM_006939.3:c.417T>G NP_008870.2:p.Ala139=
NM_006939.4:c.417T>G MANE Select NP_008870.2:p.Ala139=