Canonical Allele Identifier: CA346366192
Gene: SOS1 HGNC NCBI

Linked Data

dbSNP Id: rs1448577878
gnomAD v2: 2-39250142-C-G
gnomAD v4: 2-39023001-C-G
MyVariant Identifiers: chr2:g.39250142C>G (hg19) chr2:g.39023001C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39023001C>G , CM000664.2:g.39023001C>G GRCh38
NC_000002.11:g.39250142C>G , CM000664.1:g.39250142C>G GRCh37
NC_000002.10:g.39103646C>G NCBI36
NG_007530.1:g.102463G>C , LRG_754:g.102463G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000472480.2:n.1307G>C
ENST00000685279.1:c.194G>C ENSP00000509424.1:p.Gly65Ala
ENST00000688043.1:n.1648G>C
ENST00000689668.1:n.1434G>C
ENST00000690876.1:c.1316G>C ENSP00000508955.1:p.Gly439Ala
ENST00000691229.1:c.1316G>C ENSP00000510437.1:p.Gly439Ala
ENST00000692089.1:c.1316G>C ENSP00000508626.1:p.Gly439Ala
ENST00000692620.1:c.194G>C ENSP00000509311.1:p.Gly65Ala
ENST00000402219.8:c.1427G>C MANE Select ENSP00000384675.2:p.Gly476Ala
ENST00000395038.6:c.1427G>C ENSP00000378479.2:p.Gly476Ala
ENST00000402219.6:c.1427G>C ENSP00000384675.2:p.Gly476Ala
ENST00000426016.5:c.1427G>C ENSP00000387784.1:p.Gly476Ala
ENST00000472480.1:n.271G>C
NM_005633.3:c.1427G>C , LRG_754t1:c.1427G>C NP_005624.2:p.Gly476Ala
XM_005264515.3:c.1427G>C XP_005264572.1:p.Gly476Ala
XM_011533060.1:c.1520G>C XP_011531362.1:p.Gly507Ala
XM_011533061.1:c.1520G>C XP_011531363.1:p.Gly507Ala
XM_011533062.1:c.1406G>C XP_011531364.1:p.Gly469Ala
XM_011533063.1:c.1403G>C XP_011531365.1:p.Gly468Ala
XM_011533064.1:c.1256G>C XP_011531366.1:p.Gly419Ala
XM_011533065.1:c.1520G>C XP_011531367.1:p.Gly507Ala
XM_011533066.1:c.362G>C XP_011531368.1:p.Gly121Ala
XM_005264515.4:c.1427G>C XP_005264572.1:p.Gly476Ala
XM_011533062.2:c.1406G>C XP_011531364.1:p.Gly469Ala
XM_011533064.2:c.1256G>C XP_011531366.1:p.Gly419Ala
NM_001382394.1:c.1406G>C NP_001369323.1:p.Gly469Ala
NM_001382395.1:c.1427G>C NP_001369324.1:p.Gly476Ala
NM_005633.4:c.1427G>C MANE Select NP_005624.2:p.Gly476Ala
Search 100 bp 5'
Search 100 bp 3'