Canonical Allele Identifier: CA389649753

Gene: SOS2

Linked Data

• gnomAD v4: 14-50199833-T-A
• MyVariant Identifiers: chr14:g.50666551T>A (hg19) ; chr14:g.50199833T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50199833T>A , CM000676.2:g.50199833T>A	GRCh38
NC_000014.8:g.50666551T>A , CM000676.1:g.50666551T>A	GRCh37
NC_000014.7:g.49736301T>A	NCBI36
NG_051073.1:g.36861A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.368A>T MANE Select	ENSP00000216373.5:p.Asp123Val
ENST00000216373.9:c.368A>T	ENSP00000216373.5:p.Asp123Val
ENST00000543680.5:c.368A>T	ENSP00000445328.1:p.Asp123Val
ENST00000555666.1:n.547A>T
ENST00000556469.5:n.339A>T
NM_006939.2:c.368A>T	NP_008870.2:p.Asp123Val
XM_005268021.1:c.188A>T	XP_005268078.1:p.Asp63Val
XM_011537103.1:c.329A>T	XP_011535405.1:p.Asp110Val
XM_011537104.1:c.368A>T	XP_011535406.1:p.Asp123Val
XR_943842.1:n.1039+15961T>A
XR_943843.1:n.1039+15961T>A
NM_006939.3:c.368A>T	NP_008870.2:p.Asp123Val
NM_006939.4:c.368A>T MANE Select	NP_008870.2:p.Asp123Val