Canonical Allele Identifier: CA346366335
Gene: SOS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.39250202T>G (hg19) chr2:g.39023061T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39023061T>G , CM000664.2:g.39023061T>G GRCh38
NC_000002.11:g.39250202T>G , CM000664.1:g.39250202T>G GRCh37
NC_000002.10:g.39103706T>G NCBI36
NG_007530.1:g.102403A>C , LRG_754:g.102403A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000472480.2:n.1247A>C
ENST00000685279.1:c.134A>C ENSP00000509424.1:p.Lys45Thr
ENST00000688043.1:n.1588A>C
ENST00000689668.1:n.1374A>C
ENST00000690876.1:c.1256A>C ENSP00000508955.1:p.Lys419Thr
ENST00000691229.1:c.1256A>C ENSP00000510437.1:p.Lys419Thr
ENST00000692089.1:c.1256A>C ENSP00000508626.1:p.Lys419Thr
ENST00000692620.1:c.134A>C ENSP00000509311.1:p.Lys45Thr
ENST00000402219.8:c.1367A>C MANE Select ENSP00000384675.2:p.Lys456Thr
ENST00000395038.6:c.1367A>C ENSP00000378479.2:p.Lys456Thr
ENST00000402219.6:c.1367A>C ENSP00000384675.2:p.Lys456Thr
ENST00000426016.5:c.1367A>C ENSP00000387784.1:p.Lys456Thr
ENST00000472480.1:n.211A>C
NM_005633.3:c.1367A>C , LRG_754t1:c.1367A>C NP_005624.2:p.Lys456Thr
XM_005264515.3:c.1367A>C XP_005264572.1:p.Lys456Thr
XM_011533060.1:c.1460A>C XP_011531362.1:p.Lys487Thr
XM_011533061.1:c.1460A>C XP_011531363.1:p.Lys487Thr
XM_011533062.1:c.1346A>C XP_011531364.1:p.Lys449Thr
XM_011533063.1:c.1343A>C XP_011531365.1:p.Lys448Thr
XM_011533064.1:c.1196A>C XP_011531366.1:p.Lys399Thr
XM_011533065.1:c.1460A>C XP_011531367.1:p.Lys487Thr
XM_011533066.1:c.302A>C XP_011531368.1:p.Lys101Thr
XM_005264515.4:c.1367A>C XP_005264572.1:p.Lys456Thr
XM_011533062.2:c.1346A>C XP_011531364.1:p.Lys449Thr
XM_011533064.2:c.1196A>C XP_011531366.1:p.Lys399Thr
NM_001382394.1:c.1346A>C NP_001369323.1:p.Lys449Thr
NM_001382395.1:c.1367A>C NP_001369324.1:p.Lys456Thr
NM_005633.4:c.1367A>C MANE Select NP_005624.2:p.Lys456Thr
Search 100 bp 5'
Search 100 bp 3'