Canonical Allele Identifier: CA7176854

Gene: SOS2

Linked Data

• ClinVar Variation Id: 376857
• ClinVar RCV Id: RCV000429991 ; RCV000607638 ; RCV000652817 ; RCV003168619
• dbSNP Id: rs61755576
• ExAC: 14:50597321 T / C
• gnomAD v2: 14-50597321-T-C
• gnomAD v3: 14-50130603-T-C
• gnomAD v4: 14-50130603-T-C
• MyVariant Identifiers: chr14:g.50597321T>C (hg19) ; chr14:g.50130603T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50130603T>C , CM000676.2:g.50130603T>C	GRCh38
NC_000014.8:g.50597321T>C , CM000676.1:g.50597321T>C	GRCh37
NC_000014.7:g.49667071T>C	NCBI36
NG_051073.1:g.106091A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.3235A>G MANE Select	ENSP00000216373.5:p.Thr1079Ala
ENST00000216373.9:c.3235A>G	ENSP00000216373.5:p.Thr1079Ala
ENST00000543680.5:c.3136A>G	ENSP00000445328.1:p.Thr1046Ala
NM_006939.2:c.3235A>G	NP_008870.2:p.Thr1079Ala
XM_005268021.1:c.3055A>G	XP_005268078.1:p.Thr1019Ala
XM_011537103.1:c.3196A>G	XP_011535405.1:p.Thr1066Ala
NM_006939.3:c.3235A>G	NP_008870.2:p.Thr1079Ala
NM_006939.4:c.3235A>G MANE Select	NP_008870.2:p.Thr1079Ala