Canonical Allele Identifier: CA389649760

Gene: SOS2

Linked Data

• gnomAD v4: 14-50199837-C-A
• MyVariant Identifiers: chr14:g.50666555C>A (hg19) ; chr14:g.50199837C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50199837C>A , CM000676.2:g.50199837C>A	GRCh38
NC_000014.8:g.50666555C>A , CM000676.1:g.50666555C>A	GRCh37
NC_000014.7:g.49736305C>A	NCBI36
NG_051073.1:g.36857G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.364G>T MANE Select	ENSP00000216373.5:p.Val122Leu
ENST00000216373.9:c.364G>T	ENSP00000216373.5:p.Val122Leu
ENST00000543680.5:c.364G>T	ENSP00000445328.1:p.Val122Leu
ENST00000555666.1:n.543G>T
ENST00000556469.5:n.335G>T
NM_006939.2:c.364G>T	NP_008870.2:p.Val122Leu
XM_005268021.1:c.184G>T	XP_005268078.1:p.Val62Leu
XM_011537103.1:c.325G>T	XP_011535405.1:p.Val109Leu
XM_011537104.1:c.364G>T	XP_011535406.1:p.Val122Leu
XR_943842.1:n.1039+15965C>A
XR_943843.1:n.1039+15965C>A
NM_006939.3:c.364G>T	NP_008870.2:p.Val122Leu
NM_006939.4:c.364G>T MANE Select	NP_008870.2:p.Val122Leu