Canonical Allele Identifier: CA389649738

Gene: SOS2

Linked Data

• dbSNP Id: rs1309867315
• gnomAD v2: 14-50666546-G-A
• gnomAD v4: 14-50199828-G-A
• MyVariant Identifiers: chr14:g.50666546G>A (hg19) ; chr14:g.50199828G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50199828G>A , CM000676.2:g.50199828G>A	GRCh38
NC_000014.8:g.50666546G>A , CM000676.1:g.50666546G>A	GRCh37
NC_000014.7:g.49736296G>A	NCBI36
NG_051073.1:g.36866C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.373C>T MANE Select	ENSP00000216373.5:p.His125Tyr
ENST00000216373.9:c.373C>T	ENSP00000216373.5:p.His125Tyr
ENST00000543680.5:c.373C>T	ENSP00000445328.1:p.His125Tyr
ENST00000555666.1:n.552C>T
ENST00000556469.5:n.344C>T
NM_006939.2:c.373C>T	NP_008870.2:p.His125Tyr
XM_005268021.1:c.193C>T	XP_005268078.1:p.His65Tyr
XM_011537103.1:c.334C>T	XP_011535405.1:p.His112Tyr
XM_011537104.1:c.373C>T	XP_011535406.1:p.His125Tyr
XR_943842.1:n.1039+15956G>A
XR_943843.1:n.1039+15956G>A
NM_006939.3:c.373C>T	NP_008870.2:p.His125Tyr
NM_006939.4:c.373C>T MANE Select	NP_008870.2:p.His125Tyr