Canonical Allele Identifier: CA346365583
Gene: SOS1 HGNC NCBI

Linked Data

dbSNP Id: rs1408544158
gnomAD v2: 2-39249869-A-G
gnomAD v4: 2-39022728-A-G
MyVariant Identifiers: chr2:g.39249869A>G (hg19) chr2:g.39022728A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39022728A>G , CM000664.2:g.39022728A>G GRCh38
NC_000002.11:g.39249869A>G , CM000664.1:g.39249869A>G GRCh37
NC_000002.10:g.39103373A>G NCBI36
NG_007530.1:g.102736T>C , LRG_754:g.102736T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000472480.2:n.1580T>C
ENST00000685279.1:c.467T>C ENSP00000509424.1:p.Met156Thr
ENST00000688043.1:n.1921T>C
ENST00000689668.1:n.1707T>C
ENST00000690876.1:c.1589T>C ENSP00000508955.1:p.Met530Thr
ENST00000691229.1:c.1589T>C ENSP00000510437.1:p.Met530Thr
ENST00000692089.1:c.1589T>C ENSP00000508626.1:p.Met530Thr
ENST00000692620.1:c.467T>C ENSP00000509311.1:p.Met156Thr
ENST00000402219.8:c.1700T>C MANE Select ENSP00000384675.2:p.Met567Thr
ENST00000395038.6:c.1700T>C ENSP00000378479.2:p.Met567Thr
ENST00000402219.6:c.1700T>C ENSP00000384675.2:p.Met567Thr
ENST00000426016.5:c.1700T>C ENSP00000387784.1:p.Met567Thr
NM_005633.3:c.1700T>C , LRG_754t1:c.1700T>C NP_005624.2:p.Met567Thr
XM_005264515.3:c.1700T>C XP_005264572.1:p.Met567Thr
XM_011533060.1:c.1793T>C XP_011531362.1:p.Met598Thr
XM_011533061.1:c.1793T>C XP_011531363.1:p.Met598Thr
XM_011533062.1:c.1679T>C XP_011531364.1:p.Met560Thr
XM_011533063.1:c.1676T>C XP_011531365.1:p.Met559Thr
XM_011533064.1:c.1529T>C XP_011531366.1:p.Met510Thr
XM_011533065.1:c.1793T>C XP_011531367.1:p.Met598Thr
XM_011533066.1:c.635T>C XP_011531368.1:p.Met212Thr
XM_005264515.4:c.1700T>C XP_005264572.1:p.Met567Thr
XM_011533062.2:c.1679T>C XP_011531364.1:p.Met560Thr
XM_011533064.2:c.1529T>C XP_011531366.1:p.Met510Thr
NM_001382394.1:c.1679T>C NP_001369323.1:p.Met560Thr
NM_001382395.1:c.1700T>C NP_001369324.1:p.Met567Thr
NM_005633.4:c.1700T>C MANE Select NP_005624.2:p.Met567Thr
Search 100 bp 5'
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