Canonical Allele Identifier: CA613839858

Gene: SOS2

Linked Data

• ClinVar Variation Id: 2835843
• ClinVar RCV Id: RCV003755651
• dbSNP Id: rs1457643226
• gnomAD v2: 14-50666578-G-A
• gnomAD v4: 14-50199860-G-A
• MyVariant Identifiers: chr14:g.50666578G>A (hg19) ; chr14:g.50199860G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50199860G>A , CM000676.2:g.50199860G>A	GRCh38
NC_000014.8:g.50666578G>A , CM000676.1:g.50666578G>A	GRCh37
NC_000014.7:g.49736328G>A	NCBI36
NG_051073.1:g.36834C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.346-5C>T MANE Select	ENSP00000216373.5:n.346-5C>T
ENST00000216373.9:c.346-5C>T	ENSP00000216373.5:n.346-5C>T
ENST00000543680.5:c.346-5C>T	ENSP00000445328.1:n.346-5C>T
ENST00000555666.1:n.525-5C>T
ENST00000556469.5:n.317-5C>T
NM_006939.2:c.346-5C>T	NP_008870.2:n.346-5C>T
XM_005268021.1:c.166-5C>T	XP_005268078.1:n.166-5C>T
XM_011537103.1:c.307-5C>T	XP_011535405.1:n.307-5C>T
XM_011537104.1:c.346-5C>T	XP_011535406.1:n.346-5C>T
XR_943842.1:n.1039+15988G>A
XR_943843.1:n.1039+15988G>A
NM_006939.3:c.346-5C>T	NP_008870.2:n.346-5C>T
NM_006939.4:c.346-5C>T MANE Select	NP_008870.2:n.346-5C>T