Canonical Allele Identifier: CA389649744

Gene: SOS2

Linked Data

• gnomAD v4: 14-50199830-T-C
• MyVariant Identifiers: chr14:g.50666548T>C (hg19) ; chr14:g.50199830T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50199830T>C , CM000676.2:g.50199830T>C	GRCh38
NC_000014.8:g.50666548T>C , CM000676.1:g.50666548T>C	GRCh37
NC_000014.7:g.49736298T>C	NCBI36
NG_051073.1:g.36864A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.371A>G MANE Select	ENSP00000216373.5:p.Tyr124Cys
ENST00000216373.9:c.371A>G	ENSP00000216373.5:p.Tyr124Cys
ENST00000543680.5:c.371A>G	ENSP00000445328.1:p.Tyr124Cys
ENST00000555666.1:n.550A>G
ENST00000556469.5:n.342A>G
NM_006939.2:c.371A>G	NP_008870.2:p.Tyr124Cys
XM_005268021.1:c.191A>G	XP_005268078.1:p.Tyr64Cys
XM_011537103.1:c.332A>G	XP_011535405.1:p.Tyr111Cys
XM_011537104.1:c.371A>G	XP_011535406.1:p.Tyr124Cys
XR_943842.1:n.1039+15958T>C
XR_943843.1:n.1039+15958T>C
NM_006939.3:c.371A>G	NP_008870.2:p.Tyr124Cys
NM_006939.4:c.371A>G MANE Select	NP_008870.2:p.Tyr124Cys