Canonical Allele Identifier: CA389640484

Gene: SOS2

Linked Data

• dbSNP Id: rs1409054252
• gnomAD v2: 14-50597290-G-A
• gnomAD v4: 14-50130572-G-A
• MyVariant Identifiers: chr14:g.50597290G>A (hg19) ; chr14:g.50130572G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50130572G>A , CM000676.2:g.50130572G>A	GRCh38
NC_000014.8:g.50597290G>A , CM000676.1:g.50597290G>A	GRCh37
NC_000014.7:g.49667040G>A	NCBI36
NG_051073.1:g.106122C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.3266C>T MANE Select	ENSP00000216373.5:p.Pro1089Leu
ENST00000216373.9:c.3266C>T	ENSP00000216373.5:p.Pro1089Leu
ENST00000543680.5:c.3167C>T	ENSP00000445328.1:p.Pro1056Leu
NM_006939.2:c.3266C>T	NP_008870.2:p.Pro1089Leu
XM_005268021.1:c.3086C>T	XP_005268078.1:p.Pro1029Leu
XM_011537103.1:c.3227C>T	XP_011535405.1:p.Pro1076Leu
NM_006939.3:c.3266C>T	NP_008870.2:p.Pro1089Leu
NM_006939.4:c.3266C>T MANE Select	NP_008870.2:p.Pro1089Leu