Canonical Allele Identifier: CA1624541

Gene: SOS1

Linked Data

• ClinVar Variation Id: 40688
• ClinVar RCV Id: RCV000654972
• dbSNP Id: rs775105134
• ExAC: 2:39249719 A / G
• gnomAD v2: 2-39249719-A-G
• gnomAD v4: 2-39022578-A-G
• MyVariant Identifiers: chr2:g.39249719A>G (hg19) ; chr2:g.39022578A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39022578A>G , CM000664.2:g.39022578A>G	GRCh38
NC_000002.11:g.39249719A>G , CM000664.1:g.39249719A>G	GRCh37
NC_000002.10:g.39103223A>G	NCBI36
NG_007530.1:g.102886T>C , LRG_754:g.102886T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472480.2:n.1730T>C
ENST00000685279.1:c.617T>C	ENSP00000509424.1:p.Met206Thr
ENST00000688043.1:n.2071T>C
ENST00000689668.1:n.1857T>C
ENST00000690876.1:c.1739T>C	ENSP00000508955.1:p.Met580Thr
ENST00000691229.1:c.1739T>C	ENSP00000510437.1:p.Met580Thr
ENST00000692089.1:c.1739T>C	ENSP00000508626.1:p.Met580Thr
ENST00000692620.1:c.617T>C	ENSP00000509311.1:p.Met206Thr
ENST00000402219.8:c.1850T>C MANE Select	ENSP00000384675.2:p.Met617Thr
ENST00000395038.6:c.1850T>C	ENSP00000378479.2:p.Met617Thr
ENST00000402219.6:c.1850T>C	ENSP00000384675.2:p.Met617Thr
ENST00000426016.5:c.1850T>C	ENSP00000387784.1:p.Met617Thr
NM_005633.3:c.1850T>C , LRG_754t1:c.1850T>C	NP_005624.2:p.Met617Thr
XM_005264515.3:c.1850T>C	XP_005264572.1:p.Met617Thr
XM_011533060.1:c.1943T>C	XP_011531362.1:p.Met648Thr
XM_011533061.1:c.1943T>C	XP_011531363.1:p.Met648Thr
XM_011533062.1:c.1829T>C	XP_011531364.1:p.Met610Thr
XM_011533063.1:c.1826T>C	XP_011531365.1:p.Met609Thr
XM_011533064.1:c.1679T>C	XP_011531366.1:p.Met560Thr
XM_011533065.1:c.1943T>C	XP_011531367.1:p.Met648Thr
XM_011533066.1:c.785T>C	XP_011531368.1:p.Met262Thr
XM_005264515.4:c.1850T>C	XP_005264572.1:p.Met617Thr
XM_011533062.2:c.1829T>C	XP_011531364.1:p.Met610Thr
XM_011533064.2:c.1679T>C	XP_011531366.1:p.Met560Thr
NM_001382394.1:c.1829T>C	NP_001369323.1:p.Met610Thr
NM_001382395.1:c.1850T>C	NP_001369324.1:p.Met617Thr
NM_005633.4:c.1850T>C MANE Select	NP_005624.2:p.Met617Thr