Canonical Allele Identifier: CA389644074
Gene: SOS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1582935
ClinVar RCV Id: RCV002111331
dbSNP Id: rs1555369697
gnomAD v4: 14-50153050-CA-C
MyVariant Identifiers: chr14:g.50619769del (hg19) chr14:g.50153052del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50153053del , CM000676.2:g.50153053del GRCh38
NC_000014.8:g.50619771del , CM000676.1:g.50619771del GRCh37
NC_000014.7:g.49689521del NCBI36
NG_051073.1:g.83643del

Transcript Alleles

HGVS Amino-acid change
ENST00000216373.10:c.2161+19del MANE Select ENSP00000216373.5:n.2161+19del
ENST00000216373.9:c.2161+19del ENSP00000216373.5:n.2161+19del
ENST00000543680.5:c.2062+19del ENSP00000445328.1:n.2062+19del
NM_006939.2:c.2161+19del NP_008870.2:n.2161+19del
XM_005268021.1:c.1981+19del XP_005268078.1:n.1981+19del
XM_011537103.1:c.2122+19del XP_011535405.1:n.2122+19del
XM_011537104.1:c.2161+19del XP_011535406.1:n.2161+19del
NM_006939.3:c.2161+19del NP_008870.2:n.2161+19del
NM_006939.4:c.2161+19del MANE Select NP_008870.2:n.2161+19del
Search 100 bp 5'
Search 100 bp 3'