Canonical Allele Identifier: CA346365999
Gene: SOS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.39250056C>T (hg19) chr2:g.39022915C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39022915C>T , CM000664.2:g.39022915C>T GRCh38
NC_000002.11:g.39250056C>T , CM000664.1:g.39250056C>T GRCh37
NC_000002.10:g.39103560C>T NCBI36
NG_007530.1:g.102549G>A , LRG_754:g.102549G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000472480.2:n.1393G>A
ENST00000685279.1:c.280G>A ENSP00000509424.1:p.Asp94Asn
ENST00000688043.1:n.1734G>A
ENST00000689668.1:n.1520G>A
ENST00000690876.1:c.1402G>A ENSP00000508955.1:p.Asp468Asn
ENST00000691229.1:c.1402G>A ENSP00000510437.1:p.Asp468Asn
ENST00000692089.1:c.1402G>A ENSP00000508626.1:p.Asp468Asn
ENST00000692620.1:c.280G>A ENSP00000509311.1:p.Asp94Asn
ENST00000402219.8:c.1513G>A MANE Select ENSP00000384675.2:p.Asp505Asn
ENST00000395038.6:c.1513G>A ENSP00000378479.2:p.Asp505Asn
ENST00000402219.6:c.1513G>A ENSP00000384675.2:p.Asp505Asn
ENST00000426016.5:c.1513G>A ENSP00000387784.1:p.Asp505Asn
ENST00000472480.1:n.357G>A
NM_005633.3:c.1513G>A , LRG_754t1:c.1513G>A NP_005624.2:p.Asp505Asn
XM_005264515.3:c.1513G>A XP_005264572.1:p.Asp505Asn
XM_011533060.1:c.1606G>A XP_011531362.1:p.Asp536Asn
XM_011533061.1:c.1606G>A XP_011531363.1:p.Asp536Asn
XM_011533062.1:c.1492G>A XP_011531364.1:p.Asp498Asn
XM_011533063.1:c.1489G>A XP_011531365.1:p.Asp497Asn
XM_011533064.1:c.1342G>A XP_011531366.1:p.Asp448Asn
XM_011533065.1:c.1606G>A XP_011531367.1:p.Asp536Asn
XM_011533066.1:c.448G>A XP_011531368.1:p.Asp150Asn
XM_005264515.4:c.1513G>A XP_005264572.1:p.Asp505Asn
XM_011533062.2:c.1492G>A XP_011531364.1:p.Asp498Asn
XM_011533064.2:c.1342G>A XP_011531366.1:p.Asp448Asn
NM_001382394.1:c.1492G>A NP_001369323.1:p.Asp498Asn
NM_001382395.1:c.1513G>A NP_001369324.1:p.Asp505Asn
NM_005633.4:c.1513G>A MANE Select NP_005624.2:p.Asp505Asn
Search 100 bp 5'
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