Canonical Allele Identifier: CA7177102

Gene: SOS2

Linked Data

• ClinVar Variation Id: 475743
• ClinVar RCV Id: RCV000538946 ; RCV001175095 ; RCV001675932
• dbSNP Id: rs375702667
• ExAC: 14:50616958 G / A
• gnomAD v2: 14-50616958-G-A
• gnomAD v3: 14-50150240-G-A
• gnomAD v4: 14-50150240-G-A
• MyVariant Identifiers: chr14:g.50616958G>A (hg19) ; chr14:g.50150240G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50150240G>A , CM000676.2:g.50150240G>A	GRCh38
NC_000014.8:g.50616958G>A , CM000676.1:g.50616958G>A	GRCh37
NC_000014.7:g.49686708G>A	NCBI36
NG_051073.1:g.86454C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000216373.10:c.2162-10C>T MANE Select	ENSP00000216373.5:n.2162-10C>T
ENST00000216373.9:c.2162-10C>T	ENSP00000216373.5:n.2162-10C>T
ENST00000543680.5:c.2063-10C>T	ENSP00000445328.1:n.2063-10C>T
NM_006939.2:c.2162-10C>T	NP_008870.2:n.2162-10C>T
XM_005268021.1:c.1982-10C>T	XP_005268078.1:n.1982-10C>T
XM_011537103.1:c.2123-10C>T	XP_011535405.1:n.2123-10C>T
XM_011537104.1:c.2162-10C>T	XP_011535406.1:n.2162-10C>T
NM_006939.3:c.2162-10C>T	NP_008870.2:n.2162-10C>T
NM_006939.4:c.2162-10C>T MANE Select	NP_008870.2:n.2162-10C>T