Canonical Allele Identifier: CA389640336
Gene: SOS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2162547
ClinVar RCV Id: RCV003070299 RCV003926695
gnomAD v4: 14-50130506-G-A
MyVariant Identifiers: chr14:g.50597224G>A (hg19) chr14:g.50130506G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50130506G>A , CM000676.2:g.50130506G>A GRCh38
NC_000014.8:g.50597224G>A , CM000676.1:g.50597224G>A GRCh37
NC_000014.7:g.49666974G>A NCBI36
NG_051073.1:g.106188C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000216373.10:c.3332C>T MANE Select ENSP00000216373.5:p.Ser1111Phe
ENST00000216373.9:c.3332C>T ENSP00000216373.5:p.Ser1111Phe
ENST00000543680.5:c.3233C>T ENSP00000445328.1:p.Ser1078Phe
NM_006939.2:c.3332C>T NP_008870.2:p.Ser1111Phe
XM_005268021.1:c.3152C>T XP_005268078.1:p.Ser1051Phe
XM_011537103.1:c.3293C>T XP_011535405.1:p.Ser1098Phe
NM_006939.3:c.3332C>T NP_008870.2:p.Ser1111Phe
NM_006939.4:c.3332C>T MANE Select NP_008870.2:p.Ser1111Phe
Search 100 bp 5'
Search 100 bp 3'