Canonical Allele Identifier: CA346365421

Gene: SOS1

Linked Data

• MyVariant Identifiers: chr2:g.39249798T>G (hg19) ; chr2:g.39022657T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39022657T>G , CM000664.2:g.39022657T>G	GRCh38
NC_000002.11:g.39249798T>G , CM000664.1:g.39249798T>G	GRCh37
NC_000002.10:g.39103302T>G	NCBI36
NG_007530.1:g.102807A>C , LRG_754:g.102807A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472480.2:n.1651A>C
ENST00000685279.1:c.538A>C	ENSP00000509424.1:p.Asn180His
ENST00000688043.1:n.1992A>C
ENST00000689668.1:n.1778A>C
ENST00000690876.1:c.1660A>C	ENSP00000508955.1:p.Asn554His
ENST00000691229.1:c.1660A>C	ENSP00000510437.1:p.Asn554His
ENST00000692089.1:c.1660A>C	ENSP00000508626.1:p.Asn554His
ENST00000692620.1:c.538A>C	ENSP00000509311.1:p.Asn180His
ENST00000402219.8:c.1771A>C MANE Select	ENSP00000384675.2:p.Asn591His
ENST00000395038.6:c.1771A>C	ENSP00000378479.2:p.Asn591His
ENST00000402219.6:c.1771A>C	ENSP00000384675.2:p.Asn591His
ENST00000426016.5:c.1771A>C	ENSP00000387784.1:p.Asn591His
NM_005633.3:c.1771A>C , LRG_754t1:c.1771A>C	NP_005624.2:p.Asn591His
XM_005264515.3:c.1771A>C	XP_005264572.1:p.Asn591His
XM_011533060.1:c.1864A>C	XP_011531362.1:p.Asn622His
XM_011533061.1:c.1864A>C	XP_011531363.1:p.Asn622His
XM_011533062.1:c.1750A>C	XP_011531364.1:p.Asn584His
XM_011533063.1:c.1747A>C	XP_011531365.1:p.Asn583His
XM_011533064.1:c.1600A>C	XP_011531366.1:p.Asn534His
XM_011533065.1:c.1864A>C	XP_011531367.1:p.Asn622His
XM_011533066.1:c.706A>C	XP_011531368.1:p.Asn236His
XM_005264515.4:c.1771A>C	XP_005264572.1:p.Asn591His
XM_011533062.2:c.1750A>C	XP_011531364.1:p.Asn584His
XM_011533064.2:c.1600A>C	XP_011531366.1:p.Asn534His
NM_001382394.1:c.1750A>C	NP_001369323.1:p.Asn584His
NM_001382395.1:c.1771A>C	NP_001369324.1:p.Asn591His
NM_005633.4:c.1771A>C MANE Select	NP_005624.2:p.Asn591His