Canonical Allele Identifier: CA346366376

Gene: SOS1

Linked Data

• dbSNP Id: rs1299224105
• gnomAD v2: 2-39250223-G-T
• gnomAD v4: 2-39023082-G-T
• MyVariant Identifiers: chr2:g.39250223G>T (hg19) ; chr2:g.39023082G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39023082G>T , CM000664.2:g.39023082G>T	GRCh38
NC_000002.11:g.39250223G>T , CM000664.1:g.39250223G>T	GRCh37
NC_000002.10:g.39103727G>T	NCBI36
NG_007530.1:g.102382C>A , LRG_754:g.102382C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472480.2:n.1226C>A
ENST00000685279.1:c.113C>A	ENSP00000509424.1:p.Thr38Asn
ENST00000688043.1:n.1567C>A
ENST00000689668.1:n.1353C>A
ENST00000690876.1:c.1235C>A	ENSP00000508955.1:p.Thr412Asn
ENST00000691229.1:c.1235C>A	ENSP00000510437.1:p.Thr412Asn
ENST00000692089.1:c.1235C>A	ENSP00000508626.1:p.Thr412Asn
ENST00000692620.1:c.113C>A	ENSP00000509311.1:p.Thr38Asn
ENST00000402219.8:c.1346C>A MANE Select	ENSP00000384675.2:p.Thr449Asn
ENST00000395038.6:c.1346C>A	ENSP00000378479.2:p.Thr449Asn
ENST00000402219.6:c.1346C>A	ENSP00000384675.2:p.Thr449Asn
ENST00000426016.5:c.1346C>A	ENSP00000387784.1:p.Thr449Asn
ENST00000472480.1:n.190C>A
NM_005633.3:c.1346C>A , LRG_754t1:c.1346C>A	NP_005624.2:p.Thr449Asn
XM_005264515.3:c.1346C>A	XP_005264572.1:p.Thr449Asn
XM_011533060.1:c.1439C>A	XP_011531362.1:p.Thr480Asn
XM_011533061.1:c.1439C>A	XP_011531363.1:p.Thr480Asn
XM_011533062.1:c.1325C>A	XP_011531364.1:p.Thr442Asn
XM_011533063.1:c.1322C>A	XP_011531365.1:p.Thr441Asn
XM_011533064.1:c.1175C>A	XP_011531366.1:p.Thr392Asn
XM_011533065.1:c.1439C>A	XP_011531367.1:p.Thr480Asn
XM_011533066.1:c.281C>A	XP_011531368.1:p.Thr94Asn
XM_005264515.4:c.1346C>A	XP_005264572.1:p.Thr449Asn
XM_011533062.2:c.1325C>A	XP_011531364.1:p.Thr442Asn
XM_011533064.2:c.1175C>A	XP_011531366.1:p.Thr392Asn
NM_001382394.1:c.1325C>A	NP_001369323.1:p.Thr442Asn
NM_001382395.1:c.1346C>A	NP_001369324.1:p.Thr449Asn
NM_005633.4:c.1346C>A MANE Select	NP_005624.2:p.Thr449Asn