Canonical Allele Identifier: CA346366593

Gene: SOS1

Linked Data

• MyVariant Identifiers: chr2:g.39250313A>T (hg19) ; chr2:g.39023172A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39023172A>T , CM000664.2:g.39023172A>T	GRCh38
NC_000002.11:g.39250313A>T , CM000664.1:g.39250313A>T	GRCh37
NC_000002.10:g.39103817A>T	NCBI36
NG_007530.1:g.102292T>A , LRG_754:g.102292T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472480.2:n.1136T>A
ENST00000685279.1:c.23T>A	ENSP00000509424.1:p.Ile8Asn
ENST00000688043.1:n.1477T>A
ENST00000689668.1:n.1263T>A
ENST00000690679.1:c.1443T>A
ENST00000690876.1:c.1145T>A	ENSP00000508955.1:p.Ile382Asn
ENST00000691229.1:c.1145T>A	ENSP00000510437.1:p.Ile382Asn
ENST00000692089.1:c.1145T>A	ENSP00000508626.1:p.Ile382Asn
ENST00000692620.1:c.23T>A	ENSP00000509311.1:p.Ile8Asn
ENST00000402219.8:c.1256T>A MANE Select	ENSP00000384675.2:p.Ile419Asn
ENST00000395038.6:c.1256T>A	ENSP00000378479.2:p.Ile419Asn
ENST00000402219.6:c.1256T>A	ENSP00000384675.2:p.Ile419Asn
ENST00000426016.5:c.1256T>A	ENSP00000387784.1:p.Ile419Asn
ENST00000472480.1:n.100T>A
NM_005633.3:c.1256T>A , LRG_754t1:c.1256T>A	NP_005624.2:p.Ile419Asn
XM_005264515.3:c.1256T>A	XP_005264572.1:p.Ile419Asn
XM_011533060.1:c.1349T>A	XP_011531362.1:p.Ile450Asn
XM_011533061.1:c.1349T>A	XP_011531363.1:p.Ile450Asn
XM_011533062.1:c.1235T>A	XP_011531364.1:p.Ile412Asn
XM_011533063.1:c.1232T>A	XP_011531365.1:p.Ile411Asn
XM_011533064.1:c.1085T>A	XP_011531366.1:p.Ile362Asn
XM_011533065.1:c.1349T>A	XP_011531367.1:p.Ile450Asn
XM_011533066.1:c.191T>A	XP_011531368.1:p.Ile64Asn
XM_005264515.4:c.1256T>A	XP_005264572.1:p.Ile419Asn
XM_011533062.2:c.1235T>A	XP_011531364.1:p.Ile412Asn
XM_011533064.2:c.1085T>A	XP_011531366.1:p.Ile362Asn
NM_001382394.1:c.1235T>A	NP_001369323.1:p.Ile412Asn
NM_001382395.1:c.1256T>A	NP_001369324.1:p.Ile419Asn
NM_005633.4:c.1256T>A MANE Select	NP_005624.2:p.Ile419Asn