Canonical Allele Identifier: CA389649721

Gene: SOS2

Linked Data

• gnomAD v4: 14-50199819-G-T
• MyVariant Identifiers: chr14:g.50666537G>T (hg19) ; chr14:g.50199819G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50199819G>T , CM000676.2:g.50199819G>T	GRCh38
NC_000014.8:g.50666537G>T , CM000676.1:g.50666537G>T	GRCh37
NC_000014.7:g.49736287G>T	NCBI36
NG_051073.1:g.36875C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.382C>A MANE Select	ENSP00000216373.5:p.Leu128Ile
ENST00000216373.9:c.382C>A	ENSP00000216373.5:p.Leu128Ile
ENST00000543680.5:c.382C>A	ENSP00000445328.1:p.Leu128Ile
ENST00000555666.1:n.561C>A
ENST00000556469.5:n.353C>A
NM_006939.2:c.382C>A	NP_008870.2:p.Leu128Ile
XM_005268021.1:c.202C>A	XP_005268078.1:p.Leu68Ile
XM_011537103.1:c.343C>A	XP_011535405.1:p.Leu115Ile
XM_011537104.1:c.382C>A	XP_011535406.1:p.Leu128Ile
XR_943842.1:n.1039+15947G>T
XR_943843.1:n.1039+15947G>T
NM_006939.3:c.382C>A	NP_008870.2:p.Leu128Ile
NM_006939.4:c.382C>A MANE Select	NP_008870.2:p.Leu128Ile