Canonical Allele Identifier: CA389640467
Gene: SOS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1385905
ClinVar RCV Id: RCV001889048
dbSNP Id: rs1210330980
gnomAD v4: 14-50130567-T-A
MyVariant Identifiers: chr14:g.50597285T>A (hg19) chr14:g.50130567T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50130567T>A , CM000676.2:g.50130567T>A GRCh38
NC_000014.8:g.50597285T>A , CM000676.1:g.50597285T>A GRCh37
NC_000014.7:g.49667035T>A NCBI36
NG_051073.1:g.106127A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000216373.10:c.3271A>T MANE Select ENSP00000216373.5:p.Thr1091Ser
ENST00000216373.9:c.3271A>T ENSP00000216373.5:p.Thr1091Ser
ENST00000543680.5:c.3172A>T ENSP00000445328.1:p.Thr1058Ser
NM_006939.2:c.3271A>T NP_008870.2:p.Thr1091Ser
XM_005268021.1:c.3091A>T XP_005268078.1:p.Thr1031Ser
XM_011537103.1:c.3232A>T XP_011535405.1:p.Thr1078Ser
NM_006939.3:c.3271A>T NP_008870.2:p.Thr1091Ser
NM_006939.4:c.3271A>T MANE Select NP_008870.2:p.Thr1091Ser
Search 100 bp 5'
Search 100 bp 3'