Canonical Allele Identifier: CA346365668
Gene: SOS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.39249906C>G (hg19) chr2:g.39022765C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39022765C>G , CM000664.2:g.39022765C>G GRCh38
NC_000002.11:g.39249906C>G , CM000664.1:g.39249906C>G GRCh37
NC_000002.10:g.39103410C>G NCBI36
NG_007530.1:g.102699G>C , LRG_754:g.102699G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000472480.2:n.1543G>C
ENST00000685279.1:c.430G>C ENSP00000509424.1:p.Asp144His
ENST00000688043.1:n.1884G>C
ENST00000689668.1:n.1670G>C
ENST00000690876.1:c.1552G>C ENSP00000508955.1:p.Asp518His
ENST00000691229.1:c.1552G>C ENSP00000510437.1:p.Asp518His
ENST00000692089.1:c.1552G>C ENSP00000508626.1:p.Asp518His
ENST00000692620.1:c.430G>C ENSP00000509311.1:p.Asp144His
ENST00000402219.8:c.1663G>C MANE Select ENSP00000384675.2:p.Asp555His
ENST00000395038.6:c.1663G>C ENSP00000378479.2:p.Asp555His
ENST00000402219.6:c.1663G>C ENSP00000384675.2:p.Asp555His
ENST00000426016.5:c.1663G>C ENSP00000387784.1:p.Asp555His
NM_005633.3:c.1663G>C , LRG_754t1:c.1663G>C NP_005624.2:p.Asp555His
XM_005264515.3:c.1663G>C XP_005264572.1:p.Asp555His
XM_011533060.1:c.1756G>C XP_011531362.1:p.Asp586His
XM_011533061.1:c.1756G>C XP_011531363.1:p.Asp586His
XM_011533062.1:c.1642G>C XP_011531364.1:p.Asp548His
XM_011533063.1:c.1639G>C XP_011531365.1:p.Asp547His
XM_011533064.1:c.1492G>C XP_011531366.1:p.Asp498His
XM_011533065.1:c.1756G>C XP_011531367.1:p.Asp586His
XM_011533066.1:c.598G>C XP_011531368.1:p.Asp200His
XM_005264515.4:c.1663G>C XP_005264572.1:p.Asp555His
XM_011533062.2:c.1642G>C XP_011531364.1:p.Asp548His
XM_011533064.2:c.1492G>C XP_011531366.1:p.Asp498His
NM_001382394.1:c.1642G>C NP_001369323.1:p.Asp548His
NM_001382395.1:c.1663G>C NP_001369324.1:p.Asp555His
NM_005633.4:c.1663G>C MANE Select NP_005624.2:p.Asp555His
Search 100 bp 5'
Search 100 bp 3'