Canonical Allele Identifier: CA486169481

Gene: SOS2

Linked Data

• gnomAD v4: 14-50180617-A-G
• MyVariant Identifiers: chr14:g.50647335A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50180617A>G , CM000676.2:g.50180617A>G	GRCh38
NC_000014.8:g.50647335A>G , CM000676.1:g.50647335A>G	GRCh37
NC_000014.7:g.49717085A>G	NCBI36
NG_051073.1:g.56077T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.924T>C MANE Select	ENSP00000216373.5:p.His308=
ENST00000216373.9:c.924T>C	ENSP00000216373.5:p.His308=
ENST00000543680.5:c.924T>C	ENSP00000445328.1:p.His308=
ENST00000555794.2:c.38T>C
NM_006939.2:c.924T>C	NP_008870.2:p.His308=
XM_005268021.1:c.744T>C	XP_005268078.1:p.His248=
XM_011537103.1:c.885T>C	XP_011535405.1:p.His295=
XM_011537104.1:c.924T>C	XP_011535406.1:p.His308=
XR_943842.1:n.954-3170A>G
XR_943843.1:n.954-3170A>G
NM_006939.3:c.924T>C	NP_008870.2:p.His308=
NM_006939.4:c.924T>C MANE Select	NP_008870.2:p.His308=