Canonical Allele Identifier: CA389640556
Gene: SOS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2202335
ClinVar RCV Id: RCV002647939
dbSNP Id: rs544075244
gnomAD v4: 14-50130591-G-A
MyVariant Identifiers: chr14:g.50597309G>A (hg19) chr14:g.50130591G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50130591G>A , CM000676.2:g.50130591G>A GRCh38
NC_000014.8:g.50597309G>A , CM000676.1:g.50597309G>A GRCh37
NC_000014.7:g.49667059G>A NCBI36
NG_051073.1:g.106103C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000216373.10:c.3247C>T MANE Select ENSP00000216373.5:p.Pro1083Ser
ENST00000216373.9:c.3247C>T ENSP00000216373.5:p.Pro1083Ser
ENST00000543680.5:c.3148C>T ENSP00000445328.1:p.Pro1050Ser
NM_006939.2:c.3247C>T NP_008870.2:p.Pro1083Ser
XM_005268021.1:c.3067C>T XP_005268078.1:p.Pro1023Ser
XM_011537103.1:c.3208C>T XP_011535405.1:p.Pro1070Ser
NM_006939.3:c.3247C>T NP_008870.2:p.Pro1083Ser
NM_006939.4:c.3247C>T MANE Select NP_008870.2:p.Pro1083Ser
Search 100 bp 5'
Search 100 bp 3'