Canonical Allele Identifier: CA389644086

Gene: SOS2

Linked Data

• gnomAD v4: 14-50153072-C-A
• MyVariant Identifiers: chr14:g.50619790C>A (hg19) ; chr14:g.50153072C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50153072C>A , CM000676.2:g.50153072C>A	GRCh38
NC_000014.8:g.50619790C>A , CM000676.1:g.50619790C>A	GRCh37
NC_000014.7:g.49689540C>A	NCBI36
NG_051073.1:g.83622G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.2159G>T MANE Select	ENSP00000216373.5:p.Arg720Ile
ENST00000216373.9:c.2159G>T	ENSP00000216373.5:p.Arg720Ile
ENST00000543680.5:c.2060G>T	ENSP00000445328.1:p.Arg687Ile
NM_006939.2:c.2159G>T	NP_008870.2:p.Arg720Ile
XM_005268021.1:c.1979G>T	XP_005268078.1:p.Arg660Ile
XM_011537103.1:c.2120G>T	XP_011535405.1:p.Arg707Ile
XM_011537104.1:c.2159G>T	XP_011535406.1:p.Arg720Ile
NM_006939.3:c.2159G>T	NP_008870.2:p.Arg720Ile
NM_006939.4:c.2159G>T MANE Select	NP_008870.2:p.Arg720Ile