Canonical Allele Identifier: CA346365245

Gene: SOS1

Linked Data

• gnomAD v4: 2-39022576-A-G
• MyVariant Identifiers: chr2:g.39249717A>G (hg19) ; chr2:g.39022576A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39022576A>G , CM000664.2:g.39022576A>G	GRCh38
NC_000002.11:g.39249717A>G , CM000664.1:g.39249717A>G	GRCh37
NC_000002.10:g.39103221A>G	NCBI36
NG_007530.1:g.102888T>C , LRG_754:g.102888T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472480.2:n.1732T>C
ENST00000685279.1:c.619T>C	ENSP00000509424.1:p.Tyr207His
ENST00000688043.1:n.2073T>C
ENST00000689668.1:n.1859T>C
ENST00000690876.1:c.1741T>C	ENSP00000508955.1:p.Tyr581His
ENST00000691229.1:c.1741T>C	ENSP00000510437.1:p.Tyr581His
ENST00000692089.1:c.1741T>C	ENSP00000508626.1:p.Tyr581His
ENST00000692620.1:c.619T>C	ENSP00000509311.1:p.Tyr207His
ENST00000402219.8:c.1852T>C MANE Select	ENSP00000384675.2:p.Tyr618His
ENST00000395038.6:c.1852T>C	ENSP00000378479.2:p.Tyr618His
ENST00000402219.6:c.1852T>C	ENSP00000384675.2:p.Tyr618His
ENST00000426016.5:c.1852T>C	ENSP00000387784.1:p.Tyr618His
NM_005633.3:c.1852T>C , LRG_754t1:c.1852T>C	NP_005624.2:p.Tyr618His
XM_005264515.3:c.1852T>C	XP_005264572.1:p.Tyr618His
XM_011533060.1:c.1945T>C	XP_011531362.1:p.Tyr649His
XM_011533061.1:c.1945T>C	XP_011531363.1:p.Tyr649His
XM_011533062.1:c.1831T>C	XP_011531364.1:p.Tyr611His
XM_011533063.1:c.1828T>C	XP_011531365.1:p.Tyr610His
XM_011533064.1:c.1681T>C	XP_011531366.1:p.Tyr561His
XM_011533065.1:c.1945T>C	XP_011531367.1:p.Tyr649His
XM_011533066.1:c.787T>C	XP_011531368.1:p.Tyr263His
XM_005264515.4:c.1852T>C	XP_005264572.1:p.Tyr618His
XM_011533062.2:c.1831T>C	XP_011531364.1:p.Tyr611His
XM_011533064.2:c.1681T>C	XP_011531366.1:p.Tyr561His
NM_001382394.1:c.1831T>C	NP_001369323.1:p.Tyr611His
NM_001382395.1:c.1852T>C	NP_001369324.1:p.Tyr618His
NM_005633.4:c.1852T>C MANE Select	NP_005624.2:p.Tyr618His