Canonical Allele Identifier: CA346366013

Gene: SOS1

Linked Data

• gnomAD v4: 2-39022920-T-G
• MyVariant Identifiers: chr2:g.39250061T>G (hg19) ; chr2:g.39022920T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39022920T>G , CM000664.2:g.39022920T>G	GRCh38
NC_000002.11:g.39250061T>G , CM000664.1:g.39250061T>G	GRCh37
NC_000002.10:g.39103565T>G	NCBI36
NG_007530.1:g.102544A>C , LRG_754:g.102544A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472480.2:n.1388A>C
ENST00000685279.1:c.275A>C	ENSP00000509424.1:p.Asp92Ala
ENST00000688043.1:n.1729A>C
ENST00000689668.1:n.1515A>C
ENST00000690876.1:c.1397A>C	ENSP00000508955.1:p.Asp466Ala
ENST00000691229.1:c.1397A>C	ENSP00000510437.1:p.Asp466Ala
ENST00000692089.1:c.1397A>C	ENSP00000508626.1:p.Asp466Ala
ENST00000692620.1:c.275A>C	ENSP00000509311.1:p.Asp92Ala
ENST00000402219.8:c.1508A>C MANE Select	ENSP00000384675.2:p.Asp503Ala
ENST00000395038.6:c.1508A>C	ENSP00000378479.2:p.Asp503Ala
ENST00000402219.6:c.1508A>C	ENSP00000384675.2:p.Asp503Ala
ENST00000426016.5:c.1508A>C	ENSP00000387784.1:p.Asp503Ala
ENST00000472480.1:n.352A>C
NM_005633.3:c.1508A>C , LRG_754t1:c.1508A>C	NP_005624.2:p.Asp503Ala
XM_005264515.3:c.1508A>C	XP_005264572.1:p.Asp503Ala
XM_011533060.1:c.1601A>C	XP_011531362.1:p.Asp534Ala
XM_011533061.1:c.1601A>C	XP_011531363.1:p.Asp534Ala
XM_011533062.1:c.1487A>C	XP_011531364.1:p.Asp496Ala
XM_011533063.1:c.1484A>C	XP_011531365.1:p.Asp495Ala
XM_011533064.1:c.1337A>C	XP_011531366.1:p.Asp446Ala
XM_011533065.1:c.1601A>C	XP_011531367.1:p.Asp534Ala
XM_011533066.1:c.443A>C	XP_011531368.1:p.Asp148Ala
XM_005264515.4:c.1508A>C	XP_005264572.1:p.Asp503Ala
XM_011533062.2:c.1487A>C	XP_011531364.1:p.Asp496Ala
XM_011533064.2:c.1337A>C	XP_011531366.1:p.Asp446Ala
NM_001382394.1:c.1487A>C	NP_001369323.1:p.Asp496Ala
NM_001382395.1:c.1508A>C	NP_001369324.1:p.Asp503Ala
NM_005633.4:c.1508A>C MANE Select	NP_005624.2:p.Asp503Ala