Canonical Allele Identifier: CA346365296
Gene: SOS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.39249738C>G (hg19) chr2:g.39022597C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39022597C>G , CM000664.2:g.39022597C>G GRCh38
NC_000002.11:g.39249738C>G , CM000664.1:g.39249738C>G GRCh37
NC_000002.10:g.39103242C>G NCBI36
NG_007530.1:g.102867G>C , LRG_754:g.102867G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000472480.2:n.1711G>C
ENST00000685279.1:c.598G>C ENSP00000509424.1:p.Glu200Gln
ENST00000688043.1:n.2052G>C
ENST00000689668.1:n.1838G>C
ENST00000690876.1:c.1720G>C ENSP00000508955.1:p.Glu574Gln
ENST00000691229.1:c.1720G>C ENSP00000510437.1:p.Glu574Gln
ENST00000692089.1:c.1720G>C ENSP00000508626.1:p.Glu574Gln
ENST00000692620.1:c.598G>C ENSP00000509311.1:p.Glu200Gln
ENST00000402219.8:c.1831G>C MANE Select ENSP00000384675.2:p.Glu611Gln
ENST00000395038.6:c.1831G>C ENSP00000378479.2:p.Glu611Gln
ENST00000402219.6:c.1831G>C ENSP00000384675.2:p.Glu611Gln
ENST00000426016.5:c.1831G>C ENSP00000387784.1:p.Glu611Gln
NM_005633.3:c.1831G>C , LRG_754t1:c.1831G>C NP_005624.2:p.Glu611Gln
XM_005264515.3:c.1831G>C XP_005264572.1:p.Glu611Gln
XM_011533060.1:c.1924G>C XP_011531362.1:p.Glu642Gln
XM_011533061.1:c.1924G>C XP_011531363.1:p.Glu642Gln
XM_011533062.1:c.1810G>C XP_011531364.1:p.Glu604Gln
XM_011533063.1:c.1807G>C XP_011531365.1:p.Glu603Gln
XM_011533064.1:c.1660G>C XP_011531366.1:p.Glu554Gln
XM_011533065.1:c.1924G>C XP_011531367.1:p.Glu642Gln
XM_011533066.1:c.766G>C XP_011531368.1:p.Glu256Gln
XM_005264515.4:c.1831G>C XP_005264572.1:p.Glu611Gln
XM_011533062.2:c.1810G>C XP_011531364.1:p.Glu604Gln
XM_011533064.2:c.1660G>C XP_011531366.1:p.Glu554Gln
NM_001382394.1:c.1810G>C NP_001369323.1:p.Glu604Gln
NM_001382395.1:c.1831G>C NP_001369324.1:p.Glu611Gln
NM_005633.4:c.1831G>C MANE Select NP_005624.2:p.Glu611Gln
Search 100 bp 5'
Search 100 bp 3'