Canonical Allele Identifier: CA346366603

Gene: SOS1

Linked Data

• ClinVar Variation Id: 981563
• ClinVar RCV Id: RCV001261078
• dbSNP Id: rs1181175917
• gnomAD v2: 2-39250319-A-G
• gnomAD v3: 2-39023178-A-G
• gnomAD v4: 2-39023178-A-G
• MyVariant Identifiers: chr2:g.39250319A>G (hg19) ; chr2:g.39023178A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39023178A>G , CM000664.2:g.39023178A>G	GRCh38
NC_000002.11:g.39250319A>G , CM000664.1:g.39250319A>G	GRCh37
NC_000002.10:g.39103823A>G	NCBI36
NG_007530.1:g.102286T>C , LRG_754:g.102286T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472480.2:n.1130T>C
ENST00000685279.1:c.17T>C	ENSP00000509424.1:p.Leu6Pro
ENST00000688043.1:n.1471T>C
ENST00000689668.1:n.1257T>C
ENST00000690679.1:c.1437T>C
ENST00000690876.1:c.1139T>C	ENSP00000508955.1:p.Leu380Pro
ENST00000691229.1:c.1139T>C	ENSP00000510437.1:p.Leu380Pro
ENST00000692089.1:c.1139T>C	ENSP00000508626.1:p.Leu380Pro
ENST00000692620.1:c.17T>C	ENSP00000509311.1:p.Leu6Pro
ENST00000402219.8:c.1250T>C MANE Select	ENSP00000384675.2:p.Leu417Pro
ENST00000395038.6:c.1250T>C	ENSP00000378479.2:p.Leu417Pro
ENST00000402219.6:c.1250T>C	ENSP00000384675.2:p.Leu417Pro
ENST00000426016.5:c.1250T>C	ENSP00000387784.1:p.Leu417Pro
ENST00000472480.1:n.94T>C
NM_005633.3:c.1250T>C , LRG_754t1:c.1250T>C	NP_005624.2:p.Leu417Pro
XM_005264515.3:c.1250T>C	XP_005264572.1:p.Leu417Pro
XM_011533060.1:c.1343T>C	XP_011531362.1:p.Leu448Pro
XM_011533061.1:c.1343T>C	XP_011531363.1:p.Leu448Pro
XM_011533062.1:c.1229T>C	XP_011531364.1:p.Leu410Pro
XM_011533063.1:c.1226T>C	XP_011531365.1:p.Leu409Pro
XM_011533064.1:c.1079T>C	XP_011531366.1:p.Leu360Pro
XM_011533065.1:c.1343T>C	XP_011531367.1:p.Leu448Pro
XM_011533066.1:c.185T>C	XP_011531368.1:p.Leu62Pro
XM_005264515.4:c.1250T>C	XP_005264572.1:p.Leu417Pro
XM_011533062.2:c.1229T>C	XP_011531364.1:p.Leu410Pro
XM_011533064.2:c.1079T>C	XP_011531366.1:p.Leu360Pro
NM_001382394.1:c.1229T>C	NP_001369323.1:p.Leu410Pro
NM_001382395.1:c.1250T>C	NP_001369324.1:p.Leu417Pro
NM_005633.4:c.1250T>C MANE Select	NP_005624.2:p.Leu417Pro