Canonical Allele Identifier: CA389647062

Gene: SOS2

Linked Data

• MyVariant Identifiers: chr14:g.50647364C>G (hg19) ; chr14:g.50180646C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50180646C>G , CM000676.2:g.50180646C>G	GRCh38
NC_000014.8:g.50647364C>G , CM000676.1:g.50647364C>G	GRCh37
NC_000014.7:g.49717114C>G	NCBI36
NG_051073.1:g.56048G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.895G>C MANE Select	ENSP00000216373.5:p.Asp299His
ENST00000216373.9:c.895G>C	ENSP00000216373.5:p.Asp299His
ENST00000543680.5:c.895G>C	ENSP00000445328.1:p.Asp299His
ENST00000555794.2:c.9G>C
NM_006939.2:c.895G>C	NP_008870.2:p.Asp299His
XM_005268021.1:c.715G>C	XP_005268078.1:p.Asp239His
XM_011537103.1:c.856G>C	XP_011535405.1:p.Asp286His
XM_011537104.1:c.895G>C	XP_011535406.1:p.Asp299His
XR_943842.1:n.954-3141C>G
XR_943843.1:n.954-3141C>G
NM_006939.3:c.895G>C	NP_008870.2:p.Asp299His
NM_006939.4:c.895G>C MANE Select	NP_008870.2:p.Asp299His