Canonical Allele Identifier: CA389649557

Gene: SOS2

Linked Data

• ClinVar Variation Id: 2231829
• ClinVar RCV Id: RCV004093885
• MyVariant Identifiers: chr14:g.50666465T>A (hg19) ; chr14:g.50199747T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50199747T>A , CM000676.2:g.50199747T>A	GRCh38
NC_000014.8:g.50666465T>A , CM000676.1:g.50666465T>A	GRCh37
NC_000014.7:g.49736215T>A	NCBI36
NG_051073.1:g.36947A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.454A>T MANE Select	ENSP00000216373.5:p.Ile152Phe
ENST00000216373.9:c.454A>T	ENSP00000216373.5:p.Ile152Phe
ENST00000543680.5:c.454A>T	ENSP00000445328.1:p.Ile152Phe
ENST00000555666.1:n.633A>T
ENST00000556469.5:n.425A>T
NM_006939.2:c.454A>T	NP_008870.2:p.Ile152Phe
XM_005268021.1:c.274A>T	XP_005268078.1:p.Ile92Phe
XM_011537103.1:c.415A>T	XP_011535405.1:p.Ile139Phe
XM_011537104.1:c.454A>T	XP_011535406.1:p.Ile152Phe
XR_943842.1:n.1039+15875T>A
XR_943843.1:n.1039+15875T>A
NM_006939.3:c.454A>T	NP_008870.2:p.Ile152Phe
NM_006939.4:c.454A>T MANE Select	NP_008870.2:p.Ile152Phe