Canonical Allele Identifier: CA486169304

Gene: SOS2

Linked Data

• gnomAD v4: 14-50180590-T-C
• MyVariant Identifiers: chr14:g.50647308T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50180590T>C , CM000676.2:g.50180590T>C	GRCh38
NC_000014.8:g.50647308T>C , CM000676.1:g.50647308T>C	GRCh37
NC_000014.7:g.49717058T>C	NCBI36
NG_051073.1:g.56104A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.951A>G MANE Select	ENSP00000216373.5:p.Ala317=
ENST00000216373.9:c.951A>G	ENSP00000216373.5:p.Ala317=
ENST00000543680.5:c.951A>G	ENSP00000445328.1:p.Ala317=
ENST00000555794.2:c.65A>G
NM_006939.2:c.951A>G	NP_008870.2:p.Ala317=
XM_005268021.1:c.771A>G	XP_005268078.1:p.Ala257=
XM_011537103.1:c.912A>G	XP_011535405.1:p.Ala304=
XM_011537104.1:c.951A>G	XP_011535406.1:p.Ala317=
XR_943842.1:n.954-3197T>C
XR_943843.1:n.954-3197T>C
NM_006939.3:c.951A>G	NP_008870.2:p.Ala317=
NM_006939.4:c.951A>G MANE Select	NP_008870.2:p.Ala317=