Canonical Allele Identifier: CA389649692

Gene: SOS2

Linked Data

• ClinVar Variation Id: 1987837
• ClinVar RCV Id: RCV002776279
• MyVariant Identifiers: chr14:g.50666524G>A (hg19) ; chr14:g.50199806G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50199806G>A , CM000676.2:g.50199806G>A	GRCh38
NC_000014.8:g.50666524G>A , CM000676.1:g.50666524G>A	GRCh37
NC_000014.7:g.49736274G>A	NCBI36
NG_051073.1:g.36888C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.395C>T MANE Select	ENSP00000216373.5:p.Ala132Val
ENST00000216373.9:c.395C>T	ENSP00000216373.5:p.Ala132Val
ENST00000543680.5:c.395C>T	ENSP00000445328.1:p.Ala132Val
ENST00000555666.1:n.574C>T
ENST00000556469.5:n.366C>T
NM_006939.2:c.395C>T	NP_008870.2:p.Ala132Val
XM_005268021.1:c.215C>T	XP_005268078.1:p.Ala72Val
XM_011537103.1:c.356C>T	XP_011535405.1:p.Ala119Val
XM_011537104.1:c.395C>T	XP_011535406.1:p.Ala132Val
XR_943842.1:n.1039+15934G>A
XR_943843.1:n.1039+15934G>A
NM_006939.3:c.395C>T	NP_008870.2:p.Ala132Val
NM_006939.4:c.395C>T MANE Select	NP_008870.2:p.Ala132Val