Canonical Allele Identifier: CA389640540

Gene: SOS2

Linked Data

• ClinVar Variation Id: 2706407
• ClinVar RCV Id: RCV003592608
• MyVariant Identifiers: chr14:g.50597305G>A (hg19) ; chr14:g.50130587G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50130587G>A , CM000676.2:g.50130587G>A	GRCh38
NC_000014.8:g.50597305G>A , CM000676.1:g.50597305G>A	GRCh37
NC_000014.7:g.49667055G>A	NCBI36
NG_051073.1:g.106107C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.3251C>T MANE Select	ENSP00000216373.5:p.Thr1084Ile
ENST00000216373.9:c.3251C>T	ENSP00000216373.5:p.Thr1084Ile
ENST00000543680.5:c.3152C>T	ENSP00000445328.1:p.Thr1051Ile
NM_006939.2:c.3251C>T	NP_008870.2:p.Thr1084Ile
XM_005268021.1:c.3071C>T	XP_005268078.1:p.Thr1024Ile
XM_011537103.1:c.3212C>T	XP_011535405.1:p.Thr1071Ile
NM_006939.3:c.3251C>T	NP_008870.2:p.Thr1084Ile
NM_006939.4:c.3251C>T MANE Select	NP_008870.2:p.Thr1084Ile