Canonical Allele Identifier: CA389646987

Gene: SOS2

Linked Data

• gnomAD v4: 14-50180614-G-C
• MyVariant Identifiers: chr14:g.50647332G>C (hg19) ; chr14:g.50180614G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50180614G>C , CM000676.2:g.50180614G>C	GRCh38
NC_000014.8:g.50647332G>C , CM000676.1:g.50647332G>C	GRCh37
NC_000014.7:g.49717082G>C	NCBI36
NG_051073.1:g.56080C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.927C>G MANE Select	ENSP00000216373.5:p.Phe309Leu
ENST00000216373.9:c.927C>G	ENSP00000216373.5:p.Phe309Leu
ENST00000543680.5:c.927C>G	ENSP00000445328.1:p.Phe309Leu
ENST00000555794.2:c.41C>G
NM_006939.2:c.927C>G	NP_008870.2:p.Phe309Leu
XM_005268021.1:c.747C>G	XP_005268078.1:p.Phe249Leu
XM_011537103.1:c.888C>G	XP_011535405.1:p.Phe296Leu
XM_011537104.1:c.927C>G	XP_011535406.1:p.Phe309Leu
XR_943842.1:n.954-3173G>C
XR_943843.1:n.954-3173G>C
NM_006939.3:c.927C>G	NP_008870.2:p.Phe309Leu
NM_006939.4:c.927C>G MANE Select	NP_008870.2:p.Phe309Leu