Canonical Allele Identifier: CA389647072

Gene: SOS2

Linked Data

• gnomAD v4: 14-50180651-G-C
• MyVariant Identifiers: chr14:g.50647369G>C (hg19) ; chr14:g.50180651G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50180651G>C , CM000676.2:g.50180651G>C	GRCh38
NC_000014.8:g.50647369G>C , CM000676.1:g.50647369G>C	GRCh37
NC_000014.7:g.49717119G>C	NCBI36
NG_051073.1:g.56043C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.890C>G MANE Select	ENSP00000216373.5:p.Ser297Ter
ENST00000216373.9:c.890C>G	ENSP00000216373.5:p.Ser297Ter
ENST00000543680.5:c.890C>G	ENSP00000445328.1:p.Ser297Ter
ENST00000555794.2:c.4C>G
NM_006939.2:c.890C>G	NP_008870.2:p.Ser297Ter
XM_005268021.1:c.710C>G	XP_005268078.1:p.Ser237Ter
XM_011537103.1:c.851C>G	XP_011535405.1:p.Ser284Ter
XM_011537104.1:c.890C>G	XP_011535406.1:p.Ser297Ter
XR_943842.1:n.954-3136G>C
XR_943843.1:n.954-3136G>C
NM_006939.3:c.890C>G	NP_008870.2:p.Ser297Ter
NM_006939.4:c.890C>G MANE Select	NP_008870.2:p.Ser297Ter