Canonical Allele Identifier: CA389640340

Gene: SOS2

Linked Data

• dbSNP Id: rs2139512120
• MyVariant Identifiers: chr14:g.50597225A>G (hg19) ; chr14:g.50130507A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50130507A>G , CM000676.2:g.50130507A>G	GRCh38
NC_000014.8:g.50597225A>G , CM000676.1:g.50597225A>G	GRCh37
NC_000014.7:g.49666975A>G	NCBI36
NG_051073.1:g.106187T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000216373.10:c.3331T>C MANE Select	ENSP00000216373.5:p.Ser1111Pro
ENST00000216373.9:c.3331T>C	ENSP00000216373.5:p.Ser1111Pro
ENST00000543680.5:c.3232T>C	ENSP00000445328.1:p.Ser1078Pro
NM_006939.2:c.3331T>C	NP_008870.2:p.Ser1111Pro
XM_005268021.1:c.3151T>C	XP_005268078.1:p.Ser1051Pro
XM_011537103.1:c.3292T>C	XP_011535405.1:p.Ser1098Pro
NM_006939.3:c.3331T>C	NP_008870.2:p.Ser1111Pro
NM_006939.4:c.3331T>C MANE Select	NP_008870.2:p.Ser1111Pro