Canonical Allele Identifier: CA389649772

Gene: SOS2

Linked Data

• gnomAD v4: 14-50199841-G-T
• MyVariant Identifiers: chr14:g.50666559G>T (hg19) ; chr14:g.50199841G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50199841G>T , CM000676.2:g.50199841G>T	GRCh38
NC_000014.8:g.50666559G>T , CM000676.1:g.50666559G>T	GRCh37
NC_000014.7:g.49736309G>T	NCBI36
NG_051073.1:g.36853C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.360C>A MANE Select	ENSP00000216373.5:p.Tyr120Ter
ENST00000216373.9:c.360C>A	ENSP00000216373.5:p.Tyr120Ter
ENST00000543680.5:c.360C>A	ENSP00000445328.1:p.Tyr120Ter
ENST00000555666.1:n.539C>A
ENST00000556469.5:n.331C>A
NM_006939.2:c.360C>A	NP_008870.2:p.Tyr120Ter
XM_005268021.1:c.180C>A	XP_005268078.1:p.Tyr60Ter
XM_011537103.1:c.321C>A	XP_011535405.1:p.Tyr107Ter
XM_011537104.1:c.360C>A	XP_011535406.1:p.Tyr120Ter
XR_943842.1:n.1039+15969G>T
XR_943843.1:n.1039+15969G>T
NM_006939.3:c.360C>A	NP_008870.2:p.Tyr120Ter
NM_006939.4:c.360C>A MANE Select	NP_008870.2:p.Tyr120Ter