Canonical Allele Identifier: CA260706179

Gene: SOS2

Linked Data

• dbSNP Id: rs913014960
• MyVariant Identifiers: chr14:g.50647077T>C (hg19) ; chr14:g.50180359T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50180359T>C , CM000676.2:g.50180359T>C	GRCh38
NC_000014.8:g.50647077T>C , CM000676.1:g.50647077T>C	GRCh37
NC_000014.7:g.49716827T>C	NCBI36
NG_051073.1:g.56335A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.969+213A>G MANE Select	ENSP00000216373.5:n.969+213A>G
ENST00000216373.9:c.969+213A>G	ENSP00000216373.5:n.969+213A>G
ENST00000543680.5:c.969+213A>G	ENSP00000445328.1:n.969+213A>G
ENST00000555794.2:c.83+213A>G
NM_006939.2:c.969+213A>G	NP_008870.2:n.969+213A>G
XM_005268021.1:c.789+213A>G	XP_005268078.1:n.789+213A>G
XM_011537103.1:c.930+213A>G	XP_011535405.1:n.930+213A>G
XM_011537104.1:c.969+213A>G	XP_011535406.1:n.969+213A>G
XR_943842.1:n.954-3428T>C
XR_943843.1:n.954-3428T>C
NM_006939.3:c.969+213A>G	NP_008870.2:n.969+213A>G
NM_006939.4:c.969+213A>G MANE Select	NP_008870.2:n.969+213A>G