Canonical Allele Identifier: CA486173090

Gene: SOS2

Linked Data

• gnomAD v4: 14-50130559-T-C
• MyVariant Identifiers: chr14:g.50597277T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50130559T>C , CM000676.2:g.50130559T>C	GRCh38
NC_000014.8:g.50597277T>C , CM000676.1:g.50597277T>C	GRCh37
NC_000014.7:g.49667027T>C	NCBI36
NG_051073.1:g.106135A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.3279A>G MANE Select	ENSP00000216373.5:p.Pro1093=
ENST00000216373.9:c.3279A>G	ENSP00000216373.5:p.Pro1093=
ENST00000543680.5:c.3180A>G	ENSP00000445328.1:p.Pro1060=
NM_006939.2:c.3279A>G	NP_008870.2:p.Pro1093=
XM_005268021.1:c.3099A>G	XP_005268078.1:p.Pro1033=
XM_011537103.1:c.3240A>G	XP_011535405.1:p.Pro1080=
NM_006939.3:c.3279A>G	NP_008870.2:p.Pro1093=
NM_006939.4:c.3279A>G MANE Select	NP_008870.2:p.Pro1093=