Canonical Allele Identifier: CA389649580

Gene: SOS2

Linked Data

• MyVariant Identifiers: chr14:g.50666474C>G (hg19) ; chr14:g.50199756C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50199756C>G , CM000676.2:g.50199756C>G	GRCh38
NC_000014.8:g.50666474C>G , CM000676.1:g.50666474C>G	GRCh37
NC_000014.7:g.49736224C>G	NCBI36
NG_051073.1:g.36938G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.445G>C MANE Select	ENSP00000216373.5:p.Val149Leu
ENST00000216373.9:c.445G>C	ENSP00000216373.5:p.Val149Leu
ENST00000543680.5:c.445G>C	ENSP00000445328.1:p.Val149Leu
ENST00000555666.1:n.624G>C
ENST00000556469.5:n.416G>C
NM_006939.2:c.445G>C	NP_008870.2:p.Val149Leu
XM_005268021.1:c.265G>C	XP_005268078.1:p.Val89Leu
XM_011537103.1:c.406G>C	XP_011535405.1:p.Val136Leu
XM_011537104.1:c.445G>C	XP_011535406.1:p.Val149Leu
XR_943842.1:n.1039+15884C>G
XR_943843.1:n.1039+15884C>G
NM_006939.3:c.445G>C	NP_008870.2:p.Val149Leu
NM_006939.4:c.445G>C MANE Select	NP_008870.2:p.Val149Leu