Canonical Allele Identifier: CA389643893

Gene: SOS2

Linked Data

• ClinVar Variation Id: 1921137
• ClinVar RCV Id: RCV002608643
• gnomAD v4: 14-50150152-C-T
• MyVariant Identifiers: chr14:g.50616870C>T (hg19) ; chr14:g.50150152C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50150152C>T , CM000676.2:g.50150152C>T	GRCh38
NC_000014.8:g.50616870C>T , CM000676.1:g.50616870C>T	GRCh37
NC_000014.7:g.49686620C>T	NCBI36
NG_051073.1:g.86542G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.2240G>A MANE Select	ENSP00000216373.5:p.Ser747Asn
ENST00000216373.9:c.2240G>A	ENSP00000216373.5:p.Ser747Asn
ENST00000543680.5:c.2141G>A	ENSP00000445328.1:p.Ser714Asn
NM_006939.2:c.2240G>A	NP_008870.2:p.Ser747Asn
XM_005268021.1:c.2060G>A	XP_005268078.1:p.Ser687Asn
XM_011537103.1:c.2201G>A	XP_011535405.1:p.Ser734Asn
XM_011537104.1:c.2240G>A	XP_011535406.1:p.Ser747Asn
NM_006939.3:c.2240G>A	NP_008870.2:p.Ser747Asn
NM_006939.4:c.2240G>A MANE Select	NP_008870.2:p.Ser747Asn