Canonical Allele Identifier: CA346365908
Gene: SOS1 HGNC NCBI

Linked Data

gnomAD v4: 2-39022875-A-G
MyVariant Identifiers: chr2:g.39250016A>G (hg19) chr2:g.39022875A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39022875A>G , CM000664.2:g.39022875A>G GRCh38
NC_000002.11:g.39250016A>G , CM000664.1:g.39250016A>G GRCh37
NC_000002.10:g.39103520A>G NCBI36
NG_007530.1:g.102589T>C , LRG_754:g.102589T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000472480.2:n.1433T>C
ENST00000685279.1:c.320T>C ENSP00000509424.1:p.Leu107Ser
ENST00000688043.1:n.1774T>C
ENST00000689668.1:n.1560T>C
ENST00000690876.1:c.1442T>C ENSP00000508955.1:p.Leu481Ser
ENST00000691229.1:c.1442T>C ENSP00000510437.1:p.Leu481Ser
ENST00000692089.1:c.1442T>C ENSP00000508626.1:p.Leu481Ser
ENST00000692620.1:c.320T>C ENSP00000509311.1:p.Leu107Ser
ENST00000402219.8:c.1553T>C MANE Select ENSP00000384675.2:p.Leu518Ser
ENST00000395038.6:c.1553T>C ENSP00000378479.2:p.Leu518Ser
ENST00000402219.6:c.1553T>C ENSP00000384675.2:p.Leu518Ser
ENST00000426016.5:c.1553T>C ENSP00000387784.1:p.Leu518Ser
NM_005633.3:c.1553T>C , LRG_754t1:c.1553T>C NP_005624.2:p.Leu518Ser
XM_005264515.3:c.1553T>C XP_005264572.1:p.Leu518Ser
XM_011533060.1:c.1646T>C XP_011531362.1:p.Leu549Ser
XM_011533061.1:c.1646T>C XP_011531363.1:p.Leu549Ser
XM_011533062.1:c.1532T>C XP_011531364.1:p.Leu511Ser
XM_011533063.1:c.1529T>C XP_011531365.1:p.Leu510Ser
XM_011533064.1:c.1382T>C XP_011531366.1:p.Leu461Ser
XM_011533065.1:c.1646T>C XP_011531367.1:p.Leu549Ser
XM_011533066.1:c.488T>C XP_011531368.1:p.Leu163Ser
XM_005264515.4:c.1553T>C XP_005264572.1:p.Leu518Ser
XM_011533062.2:c.1532T>C XP_011531364.1:p.Leu511Ser
XM_011533064.2:c.1382T>C XP_011531366.1:p.Leu461Ser
NM_001382394.1:c.1532T>C NP_001369323.1:p.Leu511Ser
NM_001382395.1:c.1553T>C NP_001369324.1:p.Leu518Ser
NM_005633.4:c.1553T>C MANE Select NP_005624.2:p.Leu518Ser
Search 100 bp 5'
Search 100 bp 3'