Canonical Allele Identifier: CA425731409

Gene: SOS1

Linked Data

• gnomAD v4: 2-39023987-T-A
• MyVariant Identifiers: chr2:g.39251128T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39023987T>A , CM000664.2:g.39023987T>A	GRCh38
NC_000002.11:g.39251128T>A , CM000664.1:g.39251128T>A	GRCh37
NC_000002.10:g.39104632T>A	NCBI36
NG_007530.1:g.101477A>T , LRG_754:g.101477A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472480.2:n.1082+23A>T
ENST00000688043.1:n.1423+23A>T
ENST00000689668.1:n.1209+23A>T
ENST00000690679.1:c.1389+23A>T
ENST00000690876.1:c.1091+23A>T	ENSP00000508955.1:n.1091+23A>T
ENST00000691229.1:c.1091+23A>T	ENSP00000510437.1:n.1091+23A>T
ENST00000692089.1:c.1091+23A>T	ENSP00000508626.1:n.1091+23A>T
ENST00000402219.8:c.1202+23A>T MANE Select	ENSP00000384675.2:n.1202+23A>T
ENST00000395038.6:c.1202+23A>T	ENSP00000378479.2:n.1202+23A>T
ENST00000402219.6:c.1202+23A>T	ENSP00000384675.2:n.1202+23A>T
ENST00000426016.5:c.1202+23A>T	ENSP00000387784.1:n.1202+23A>T
NM_005633.3:c.1202+23A>T , LRG_754t1:c.1202+23A>T	NP_005624.2:n.1202+23A>T
XM_005264515.3:c.1202+23A>T	XP_005264572.1:n.1202+23A>T
XM_011533060.1:c.1295+23A>T	XP_011531362.1:n.1295+23A>T
XM_011533061.1:c.1295+23A>T	XP_011531363.1:n.1295+23A>T
XM_011533062.1:c.1181+23A>T	XP_011531364.1:n.1181+23A>T
XM_011533063.1:c.1178+23A>T	XP_011531365.1:n.1178+23A>T
XM_011533064.1:c.1031+23A>T	XP_011531366.1:n.1031+23A>T
XM_011533065.1:c.1295+23A>T	XP_011531367.1:n.1295+23A>T
XM_011533066.1:c.137+23A>T	XP_011531368.1:n.137+23A>T
XM_005264515.4:c.1202+23A>T	XP_005264572.1:n.1202+23A>T
XM_011533062.2:c.1181+23A>T	XP_011531364.1:n.1181+23A>T
XM_011533064.2:c.1031+23A>T	XP_011531366.1:n.1031+23A>T
NM_001382394.1:c.1181+23A>T	NP_001369323.1:n.1181+23A>T
NM_001382395.1:c.1202+23A>T	NP_001369324.1:n.1202+23A>T
NM_005633.4:c.1202+23A>T MANE Select	NP_005624.2:n.1202+23A>T