Canonical Allele Identifier: CA260713889
Gene: SOS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 928962
ClinVar RCV Id: RCV001193659 RCV001876254
dbSNP Id: rs924531063
gnomAD v2: 14-50597215-T-C
gnomAD v4: 14-50130497-T-C
MyVariant Identifiers: chr14:g.50597215T>C (hg19) chr14:g.50130497T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50130497T>C , CM000676.2:g.50130497T>C GRCh38
NC_000014.8:g.50597215T>C , CM000676.1:g.50597215T>C GRCh37
NC_000014.7:g.49666965T>C NCBI36
NG_051073.1:g.106197A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000216373.10:c.3337+4A>G MANE Select ENSP00000216373.5:n.3337+4A>G
ENST00000216373.9:c.3337+4A>G ENSP00000216373.5:n.3337+4A>G
ENST00000543680.5:c.3238+4A>G ENSP00000445328.1:n.3238+4A>G
NM_006939.2:c.3337+4A>G NP_008870.2:n.3337+4A>G
XM_005268021.1:c.3157+4A>G XP_005268078.1:n.3157+4A>G
XM_011537103.1:c.3298+4A>G XP_011535405.1:n.3298+4A>G
NM_006939.3:c.3337+4A>G NP_008870.2:n.3337+4A>G
NM_006939.4:c.3337+4A>G MANE Select NP_008870.2:n.3337+4A>G
Search 100 bp 5'
Search 100 bp 3'