Canonical Allele Identifier: CA613848295

Gene: SOS2

Linked Data

• dbSNP Id: rs1211050857
• gnomAD v2: 14-50619783-T-C
• gnomAD v4: 14-50153065-T-C
• MyVariant Identifiers: chr14:g.50619783T>C (hg19) ; chr14:g.50153065T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50153065T>C , CM000676.2:g.50153065T>C	GRCh38
NC_000014.8:g.50619783T>C , CM000676.1:g.50619783T>C	GRCh37
NC_000014.7:g.49689533T>C	NCBI36
NG_051073.1:g.83629A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000216373.10:c.2161+5A>G MANE Select	ENSP00000216373.5:n.2161+5A>G
ENST00000216373.9:c.2161+5A>G	ENSP00000216373.5:n.2161+5A>G
ENST00000543680.5:c.2062+5A>G	ENSP00000445328.1:n.2062+5A>G
NM_006939.2:c.2161+5A>G	NP_008870.2:n.2161+5A>G
XM_005268021.1:c.1981+5A>G	XP_005268078.1:n.1981+5A>G
XM_011537103.1:c.2122+5A>G	XP_011535405.1:n.2122+5A>G
XM_011537104.1:c.2161+5A>G	XP_011535406.1:n.2161+5A>G
NM_006939.3:c.2161+5A>G	NP_008870.2:n.2161+5A>G
NM_006939.4:c.2161+5A>G MANE Select	NP_008870.2:n.2161+5A>G