Canonical Allele Identifier: CA260721721

Gene: SOS2

Linked Data

• dbSNP Id: rs374636107
• gnomAD v2: 14-50666612-A-C
• gnomAD v3: 14-50199894-A-C
• gnomAD v4: 14-50199894-A-C
• MyVariant Identifiers: chr14:g.50666612A>C (hg19) ; chr14:g.50199894A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50199894A>C , CM000676.2:g.50199894A>C	GRCh38
NC_000014.8:g.50666612A>C , CM000676.1:g.50666612A>C	GRCh37
NC_000014.7:g.49736362A>C	NCBI36
NG_051073.1:g.36800T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.346-39T>G MANE Select	ENSP00000216373.5:n.346-39T>G
ENST00000216373.9:c.346-39T>G	ENSP00000216373.5:n.346-39T>G
ENST00000543680.5:c.346-39T>G	ENSP00000445328.1:n.346-39T>G
ENST00000555666.1:n.525-39T>G
ENST00000556469.5:n.317-39T>G
NM_006939.2:c.346-39T>G	NP_008870.2:n.346-39T>G
XM_005268021.1:c.166-39T>G	XP_005268078.1:n.166-39T>G
XM_011537103.1:c.307-39T>G	XP_011535405.1:n.307-39T>G
XM_011537104.1:c.346-39T>G	XP_011535406.1:n.346-39T>G
XR_943842.1:n.1039+16022A>C
XR_943843.1:n.1039+16022A>C
NM_006939.3:c.346-39T>G	NP_008870.2:n.346-39T>G
NM_006939.4:c.346-39T>G MANE Select	NP_008870.2:n.346-39T>G