Canonical Allele Identifier: CA389649716

Gene: SOS2

Linked Data

• gnomAD v4: 14-50199816-A-G
• MyVariant Identifiers: chr14:g.50666534A>G (hg19) ; chr14:g.50199816A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50199816A>G , CM000676.2:g.50199816A>G	GRCh38
NC_000014.8:g.50666534A>G , CM000676.1:g.50666534A>G	GRCh37
NC_000014.7:g.49736284A>G	NCBI36
NG_051073.1:g.36878T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.385T>C MANE Select	ENSP00000216373.5:p.Tyr129His
ENST00000216373.9:c.385T>C	ENSP00000216373.5:p.Tyr129His
ENST00000543680.5:c.385T>C	ENSP00000445328.1:p.Tyr129His
ENST00000555666.1:n.564T>C
ENST00000556469.5:n.356T>C
NM_006939.2:c.385T>C	NP_008870.2:p.Tyr129His
XM_005268021.1:c.205T>C	XP_005268078.1:p.Tyr69His
XM_011537103.1:c.346T>C	XP_011535405.1:p.Tyr116His
XM_011537104.1:c.385T>C	XP_011535406.1:p.Tyr129His
XR_943842.1:n.1039+15944A>G
XR_943843.1:n.1039+15944A>G
NM_006939.3:c.385T>C	NP_008870.2:p.Tyr129His
NM_006939.4:c.385T>C MANE Select	NP_008870.2:p.Tyr129His