Canonical Allele Identifier: CA346365414
Gene: SOS1 HGNC NCBI

Linked Data

dbSNP Id: rs1669833901
gnomAD v4: 2-39022654-T-G
MyVariant Identifiers: chr2:g.39249795T>G (hg19) chr2:g.39022654T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39022654T>G , CM000664.2:g.39022654T>G GRCh38
NC_000002.11:g.39249795T>G , CM000664.1:g.39249795T>G GRCh37
NC_000002.10:g.39103299T>G NCBI36
NG_007530.1:g.102810A>C , LRG_754:g.102810A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000472480.2:n.1654A>C
ENST00000685279.1:c.541A>C ENSP00000509424.1:p.Met181Leu
ENST00000688043.1:n.1995A>C
ENST00000689668.1:n.1781A>C
ENST00000690876.1:c.1663A>C ENSP00000508955.1:p.Met555Leu
ENST00000691229.1:c.1663A>C ENSP00000510437.1:p.Met555Leu
ENST00000692089.1:c.1663A>C ENSP00000508626.1:p.Met555Leu
ENST00000692620.1:c.541A>C ENSP00000509311.1:p.Met181Leu
ENST00000402219.8:c.1774A>C MANE Select ENSP00000384675.2:p.Met592Leu
ENST00000395038.6:c.1774A>C ENSP00000378479.2:p.Met592Leu
ENST00000402219.6:c.1774A>C ENSP00000384675.2:p.Met592Leu
ENST00000426016.5:c.1774A>C ENSP00000387784.1:p.Met592Leu
NM_005633.3:c.1774A>C , LRG_754t1:c.1774A>C NP_005624.2:p.Met592Leu
XM_005264515.3:c.1774A>C XP_005264572.1:p.Met592Leu
XM_011533060.1:c.1867A>C XP_011531362.1:p.Met623Leu
XM_011533061.1:c.1867A>C XP_011531363.1:p.Met623Leu
XM_011533062.1:c.1753A>C XP_011531364.1:p.Met585Leu
XM_011533063.1:c.1750A>C XP_011531365.1:p.Met584Leu
XM_011533064.1:c.1603A>C XP_011531366.1:p.Met535Leu
XM_011533065.1:c.1867A>C XP_011531367.1:p.Met623Leu
XM_011533066.1:c.709A>C XP_011531368.1:p.Met237Leu
XM_005264515.4:c.1774A>C XP_005264572.1:p.Met592Leu
XM_011533062.2:c.1753A>C XP_011531364.1:p.Met585Leu
XM_011533064.2:c.1603A>C XP_011531366.1:p.Met535Leu
NM_001382394.1:c.1753A>C NP_001369323.1:p.Met585Leu
NM_001382395.1:c.1774A>C NP_001369324.1:p.Met592Leu
NM_005633.4:c.1774A>C MANE Select NP_005624.2:p.Met592Leu
Search 100 bp 5'
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