Canonical Allele Identifier: CA389646960

Gene: SOS2

Linked Data

• dbSNP Id: rs1885703028
• gnomAD v3: 14-50180602-C-T
• gnomAD v4: 14-50180602-C-T
• MyVariant Identifiers: chr14:g.50647320C>T (hg19) ; chr14:g.50180602C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50180602C>T , CM000676.2:g.50180602C>T	GRCh38
NC_000014.8:g.50647320C>T , CM000676.1:g.50647320C>T	GRCh37
NC_000014.7:g.49717070C>T	NCBI36
NG_051073.1:g.56092G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.939G>A MANE Select	ENSP00000216373.5:p.Met313Ile
ENST00000216373.9:c.939G>A	ENSP00000216373.5:p.Met313Ile
ENST00000543680.5:c.939G>A	ENSP00000445328.1:p.Met313Ile
ENST00000555794.2:c.53G>A
NM_006939.2:c.939G>A	NP_008870.2:p.Met313Ile
XM_005268021.1:c.759G>A	XP_005268078.1:p.Met253Ile
XM_011537103.1:c.900G>A	XP_011535405.1:p.Met300Ile
XM_011537104.1:c.939G>A	XP_011535406.1:p.Met313Ile
XR_943842.1:n.954-3185C>T
XR_943843.1:n.954-3185C>T
NM_006939.3:c.939G>A	NP_008870.2:p.Met313Ile
NM_006939.4:c.939G>A MANE Select	NP_008870.2:p.Met313Ile