Canonical Allele Identifier: CA389647114

Gene: SOS2

Linked Data

• gnomAD v4: 14-50180669-T-G
• MyVariant Identifiers: chr14:g.50647387T>G (hg19) ; chr14:g.50180669T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50180669T>G , CM000676.2:g.50180669T>G	GRCh38
NC_000014.8:g.50647387T>G , CM000676.1:g.50647387T>G	GRCh37
NC_000014.7:g.49717137T>G	NCBI36
NG_051073.1:g.56025A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.872A>C MANE Select	ENSP00000216373.5:p.Asp291Ala
ENST00000216373.9:c.872A>C	ENSP00000216373.5:p.Asp291Ala
ENST00000543680.5:c.872A>C	ENSP00000445328.1:p.Asp291Ala
NM_006939.2:c.872A>C	NP_008870.2:p.Asp291Ala
XM_005268021.1:c.692A>C	XP_005268078.1:p.Asp231Ala
XM_011537103.1:c.833A>C	XP_011535405.1:p.Asp278Ala
XM_011537104.1:c.872A>C	XP_011535406.1:p.Asp291Ala
XR_943842.1:n.954-3118T>G
XR_943843.1:n.954-3118T>G
NM_006939.3:c.872A>C	NP_008870.2:p.Asp291Ala
NM_006939.4:c.872A>C MANE Select	NP_008870.2:p.Asp291Ala