Canonical Allele Identifier: CA389647678

Gene: SOS2

Linked Data

• dbSNP Id: rs939707624
• gnomAD v3: 14-50182504-G-A
• gnomAD v4: 14-50182504-G-A
• MyVariant Identifiers: chr14:g.50649222G>A (hg19) ; chr14:g.50182504G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50182504G>A , CM000676.2:g.50182504G>A	GRCh38
NC_000014.8:g.50649222G>A , CM000676.1:g.50649222G>A	GRCh37
NC_000014.7:g.49718972G>A	NCBI36
NG_051073.1:g.54190C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000216373.10:c.817C>T MANE Select	ENSP00000216373.5:p.Pro273Ser
ENST00000216373.9:c.817C>T	ENSP00000216373.5:p.Pro273Ser
ENST00000543680.5:c.817C>T	ENSP00000445328.1:p.Pro273Ser
ENST00000556469.5:n.584C>T
NM_006939.2:c.817C>T	NP_008870.2:p.Pro273Ser
XM_005268021.1:c.637C>T	XP_005268078.1:p.Pro213Ser
XM_011537103.1:c.778C>T	XP_011535405.1:p.Pro260Ser
XM_011537104.1:c.817C>T	XP_011535406.1:p.Pro273Ser
XR_943842.1:n.954-1283G>A
XR_943843.1:n.954-1283G>A
NM_006939.3:c.817C>T	NP_008870.2:p.Pro273Ser
NM_006939.4:c.817C>T MANE Select	NP_008870.2:p.Pro273Ser